DNA sequencing

DNA sequencing is the process of determining the nucleic acid sequence – the order
of nucleotides in DNA. It includes any method or technology that is used to determine
the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of
rapid DNA sequencing methods has greatly accelerated biological and medical
research and discovery.[1][2]

Knowledge of DNA sequences has become indispensable for basic biological

research, DNA Genographic Projects and in numerous applied fields such as medical
diagnosis, biotechnology, forensic biology, virology and biological systematics.
Comparing healthy and mutated DNA sequences can diagnose different diseases
including various cancers,[3] characterize antibody repertoire,[4] and can be used to
guide patient treatment.[5] Having a quick way to sequence DNA allows for faster and
more individualized medical care to be administered, and for more organisms to be
identified and cataloged.[4]

The rapid speed of sequencing attained with modern DNA sequencing technology has
been instrumental in the sequencing of complete DNA sequences, or genomes, of
numerous types and species of life, including the human genome and other complete
DNA sequences of many animal, plant, and microbial species.
 An example of the results of
automated chain-termination DNA
sequencing.

The first DNA sequences were obtained in the early 1970s by academic researchers
using laborious methods based on two-dimensional chromatography. Following the
development of fluorescence-based sequencing methods with a DNA sequencer,[6]
DNA sequencing has become easier and orders of magnitude faster.[7][8]

Applications
DNA sequencing may be used to determine the sequence of individual genes, larger
genetic regions (i.e. clusters of genes or operons), full chromosomes, or entire
genomes of any organism. DNA sequencing is also the most efficient way to
indirectly sequence RNA or proteins (via their open reading frames). In fact, DNA
sequencing has become a key technology in many areas of biology and other
sciences such as medicine, forensics, and anthropology.

Molecular biology
Sequencing is used in molecular biology to study genomes and the proteins they
encode. Information obtained using sequencing allows researchers to identify
changes in genes and noncoding DNA (including regulatory sequences), associations
with diseases and phenotypes, and identify potential drug targets.

Evolutionary biology
Since DNA is an informative macromolecule in terms of transmission from one
generation to another, DNA sequencing is used in evolutionary biology to study how
different organisms are related and how they evolved. In February 2021, scientists
reported, for the first time, the sequencing of DNA from animal remains, a mammoth
in this instance, over a million years old, the oldest DNA sequenced to date.[9][10]

Metagenomics
The field of metagenomics involves identification of organisms present in a body of
water, sewage, dirt, debris filtered from the air, or swab samples from organisms.
Knowing which organisms are present in a particular environment is critical to
research in ecology, epidemiology, microbiology, and other fields. Sequencing
enables researchers to determine which types of microbes may be present in a
microbiome, for example.

Virology
As most viruses are too small to be seen by a light microscope, sequencing is one of
f [11]
based in DNA or RNA. RNA viruses are more time-sensitive for genome sequencing,
as they degrade faster in clinical samples.[12] Traditional Sanger sequencing and next-
generation sequencing are used to sequence viruses in basic and clinical research, as
well as for the diagnosis of emerging viral infections, molecular epidemiology of viral
pathogens, and drug-resistance testing. There are more than 2.3 million unique viral
sequences in GenBank.[11] Recently, NGS has surpassed traditional Sanger as the
most popular approach for generating viral genomes.[11]

During the 1990 avian influenza outbreak, viral sequencing determined that the
influenza sub-type originated through reassortment between quail and poultry. This
led to legislation in Hong Kong that prohibited selling live quail and poultry together at
market. Viral sequencing can also be used to estimate when a viral outbreak began by
using a molecular clock technique.[12]

Medicine
Medical technicians may sequence genes (or, theoretically, full genomes) from
patients to determine if there is risk of genetic diseases. This is a form of genetic
testing, though some genetic tests may not involve DNA sequencing.

As of 2013 DNA sequencing was increasingly used to diagnose and treat rare
diseases. As more and more genes are identified that cause rare genetic diseases,
molecular diagnoses for patients become more mainstream. DNA sequencing allows
clinicians to identify genetic diseases, improve disease management, provide
reproductive counseling, and more effective therapies.[13] Gene sequencing panels
are used to identify multiple potential genetic causes of a suspected disorder.[14]

Also, DNA sequencing may be useful for determining a specific bacteria, to allow for
more precise antibiotics treatments, hereby reducing the risk of creating antimicrobial
resistance in bacteria populations.[15][16][17][18][19][20]
Forensic investigation
DNA sequencing may be used along with DNA profiling methods for forensic
identification[21] and paternity testing. DNA testing has evolved tremendously in the
last few decades to ultimately link a DNA print to what is under investigation. The
DNA patterns in fingerprint, saliva, hair follicles, etc. uniquely separate each living
organism from another. Testing DNA is a technique which can detect specific
genomes in a DNA strand to produce a unique and individualized pattern.

The four canonical bases

The canonical structure of DNA has four bases: thymine (T), adenine (A), cytosine (C),
and guanine (G). DNA sequencing is the determination of the physical order of these
bases in a molecule of DNA. However, there are many other bases that may be
present in a molecule. In some viruses (specifically, bacteriophage), cytosine may be
replaced by hydroxy methyl or hydroxy methyl glucose cytosine.[22] In mammalian
DNA, variant bases with methyl groups or phosphosulfate may be found.[23][24]
Depending on the sequencing technique, a particular modification, e.g., the 5mC (5
methyl cytosine) common in humans, may or may not be detected.[25]

In almost all organisms, DNA is synthesized in vivo using only the 4 canonical bases;
modification that occurs post replication creates other bases like 5 methyl C.
However, some bacteriophage can incorporate a non standard base directly.[26]

In addition to modifications, DNA is under constant assault by environmental agents

such as UV and Oxygen radicals. At the present time, the presence of such damaged
bases is not detected by most DNA sequencing methods, although PacBio has
published on this.[27]

History
Discovery of DNA structure and
function
Deoxyribonucleic acid (DNA) was first discovered and isolated by Friedrich Miescher
in 1869, but it remained under-studied for many decades because proteins, rather
than DNA, were thought to hold the genetic blueprint to life. This situation changed
after 1944 as a result of some experiments by Oswald Avery, Colin MacLeod, and
Maclyn McCarty demonstrating that purified DNA could change one strain of bacteria
into another. This was the first time that DNA was shown capable of transforming the
properties of cells.

In 1953, James Watson and Francis Crick put forward their double-helix model of
DNA, based on crystallized X-ray structures being studied by Rosalind Franklin.
According to the model, DNA is composed of two strands of nucleotides coiled
around each other, linked together by hydrogen bonds and running in opposite
directions. Each strand is composed of four complementary nucleotides – adenine
(A), cytosine (C), guanine (G) and thymine (T) – with an A on one strand always paired
with T on the other, and C always paired with G. They proposed that such a structure
allowed each strand to be used to reconstruct the other, an idea central to the passing
on of hereditary information between generations.[28]
 Frederick Sanger, a pioneer of
sequencing. Sanger is one of the few
scientists who was awarded two
Nobel prizes, one for the sequencing
of proteins, and the other for the
sequencing of DNA.

The foundation for sequencing proteins was first laid by the work of Frederick Sanger
who by 1955 had completed the sequence of all the amino acids in insulin, a small
protein secreted by the pancreas. This provided the first conclusive evidence that
proteins were chemical entities with a specific molecular pattern rather than a
random mixture of material suspended in fluid. Sanger's success in sequencing
insulin spurred on x-ray crystallographers, including Watson and Crick, who by now
were trying to understand how DNA directed the formation of proteins within a cell.
Soon after attending a series of lectures given by Frederick Sanger in October 1954,
Crick began developing a theory which argued that the arrangement of nucleotides in
DNA determined the sequence of amino acids in proteins, which in turn helped
determine the function of a protein. He published this theory in 1958.[29]

RNA sequencing
RNA sequencing was one of the earliest forms of nucleotide sequencing. The major
landmark of RNA sequencing is the sequence of the first complete gene and the
complete genome of Bacteriophage MS2, identified and published by Walter Fiers and
his coworkers at the University of Ghent (Ghent, Belgium), in 1972[30] and 1976.[31]
Traditional RNA sequencing methods require the creation of a cDNA molecule which
must be sequenced.[32]

Early DNA sequencing methods

The first method for determining DNA sequences involved a location-specific primer
extension strategy established by Ray Wu at Cornell University in 1970.[33] DNA
polymerase catalysis and specific nucleotide labeling, both of which figure
prominently in current sequencing schemes, were used to sequence the cohesive
ends of lambda phage DNA.[34][35][36] Between 1970 and 1973, Wu, R Padmanabhan
and colleagues demonstrated that this method can be employed to determine any
DNA sequence using synthetic location-specific primers.[37][38][8] Frederick Sanger
then adopted this primer-extension strategy to develop more rapid DNA sequencing
methods at the MRC Centre, Cambridge, UK and published a method for "DNA
sequencing with chain-terminating inhibitors" in 1977.[39] Walter Gilbert and Allan
Maxam at Harvard also developed sequencing methods, including one for "DNA
sequencing by chemical degradation".[40][41] In 1973, Gilbert and Maxam reported the
sequence of 24 basepairs using a method known as wandering-spot analysis.[42]
Advancements in sequencing were aided by the concurrent development of
recombinant DNA technology, allowing DNA samples to be isolated from sources
other than viruses.

Sequencing of full genomes

 The 5,386 bp genome of bacteriophage φX174.
Each coloured block represents a gene.

The first full DNA genome to be sequenced was that of bacteriophage φX174 in
1977.[43] Medical Research Council scientists deciphered the complete DNA
sequence of the Epstein-Barr virus in 1984, finding it contained 172,282 nucleotides.
Completion of the sequence marked a significant turning point in DNA sequencing
because it was achieved with no prior genetic profile knowledge of the virus.[44][8]

A non-radioactive method for transferring the DNA molecules of sequencing reaction

mixtures onto an immobilizing matrix during electrophoresis was developed by
Herbert Pohl and co-workers in the early 1980s.[45][46] Followed by the
commercialization of the DNA sequencer "Direct-Blotting-Electrophoresis-System
GATC 1500" by GATC Biotech, which was intensively used in the framework of the EU
genome-sequencing programme, the complete DNA sequence of the yeast
Saccharomyces cerevisiae chromosome II.[47] Leroy E. Hood's laboratory at the
California Institute of Technology announced the first semi-automated DNA
sequencing machine in 1986.[48] This was followed by Applied Biosystems' marketing
of the first fully automated sequencing machine, the ABI 370, in 1987 and by Dupont's
Genesis 2000[49] which used a novel fluorescent labeling technique enabling all four
dideoxynucleotides to be identified in a single lane. By 1990, the U.S. National
Institutes of Health (NIH) had begun large-scale sequencing trials on Mycoplasma
capricolum, Escherichia coli, Caenorhabditis elegans, and Saccharomyces cerevisiae at
a cost of US$0.75 per base. Meanwhile, sequencing of human cDNA sequences
called expressed sequence tags began in Craig Venter's lab, an attempt to capture the
coding fraction of the human genome.[50] In 1995, Venter, Hamilton Smith, and
colleagues at The Institute for Genomic Research (TIGR) published the first complete
genome of a free-living organism, the bacterium Haemophilus influenzae. The circular
chromosome contains 1,830,137 bases and its publication in the journal Science[51]
marked the first published use of whole-genome shotgun sequencing, eliminating the
need for initial mapping efforts.

By 2001, shotgun sequencing methods had been used to produce a draft sequence of
the human genome.[52][53]

High-throughput sequencing
(HTS) methods

History of sequencing technology [54]

Several new methods for DNA sequencing were developed in the mid to late 1990s
and were implemented in commercial DNA sequencers by 2000. Together these were
called the "next-generation" or "second-generation" sequencing (NGS) methods, in
order to distinguish them from the earlier methods, including Sanger sequencing. In
contrast to the first generation of sequencing, NGS technology is typically
characterized by being highly scalable, allowing the entire genome to be sequenced at
once. Usually, this is accomplished by fragmenting the genome into small pieces,
randomly sampling for a fragment, and sequencing it using one of a variety of
technologies, such as those described below. An entire genome is possible because
multiple fragments are sequenced at once (giving it the name "massively parallel"
sequencing) in an automated process.

NGS technology has tremendously empowered researchers to look for insights into
health, anthropologists to investigate human origins, and is catalyzing the
"Personalized Medicine" movement. However, it has also opened the door to more
room for error. There are many software tools to carry out the computational analysis
of NGS data, often compiled at online platforms such as CSI NGS Portal, each with its
own algorithm. Even the parameters within one software package can change the
outcome of the analysis. In addition, the large quantities of data produced by DNA
sequencing have also required development of new methods and programs for
sequence analysis. Several efforts to develop standards in the NGS field have been
attempted to address these challenges, most of which have been small-scale efforts
arising from individual labs. Most recently, a large, organized, FDA-funded effort has
culminated in the BioCompute standard.

On 26 October 1990, Roger Tsien, Pepi Ross, Margaret Fahnestock and Allan J
Johnston filed a patent describing stepwise ("base-by-base") sequencing with
removable 3' blockers on DNA arrays (blots and single DNA molecules).[55] In 1996,
Pål Nyrén and his student Mostafa Ronaghi at the Royal Institute of Technology in
Stockholm published their method of pyrosequencing.[56]

On 1 April 1997, Pascal Mayer and Laurent Farinelli submitted patents to the World
Intellectual Property Organization describing DNA colony sequencing.[57] The DNA
sample preparation and random surface-polymerase chain reaction (PCR) arraying
methods described in this patent, coupled to Roger Tsien et al.'s "base-by-base"
sequencing method, is now implemented in Illumina's Hi-Seq genome sequencers.

In 1998, Phil Green and Brent Ewing of the University of Washington described their
phred quality score for sequencer data analysis,[58] a landmark analysis technique
that gained widespread adoption, and which is still the most common metric for
assessing the accuracy of a sequencing platform.[59]

Lynx Therapeutics published and marketed massively parallel signature sequencing

(MPSS), in 2000. This method incorporated a parallelized, adapter/ligation-mediated,
bead-based sequencing technology and served as the first commercially available
"next-generation" sequencing method, though no DNA sequencers were sold to
independent laboratories.[60]
Basic methods

Maxam-Gilbert sequencing
Allan Maxam and Walter Gilbert published a DNA sequencing method in 1977 based
on chemical modification of DNA and subsequent cleavage at specific bases.[40] Also
known as chemical sequencing, this method allowed purified samples of double-
stranded DNA to be used without further cloning. This method's use of radioactive
labeling and its technical complexity discouraged extensive use after refinements in
the Sanger methods had been made.

Maxam-Gilbert sequencing requires radioactive labeling at one 5' end of the DNA and
purification of the DNA fragment to be sequenced. Chemical treatment then
generates breaks at a small proportion of one or two of the four nucleotide bases in
each of four reactions (G, A+G, C, C+T). The concentration of the modifying chemicals
is controlled to introduce on average one modification per DNA molecule. Thus a
series of labeled fragments is generated, from the radiolabeled end to the first "cut"
site in each molecule. The fragments in the four reactions are electrophoresed side
by side in denaturing acrylamide gels for size separation. To visualize the fragments,
the gel is exposed to X-ray film for autoradiography, yielding a series of dark bands
each corresponding to a radiolabeled DNA fragment, from which the sequence may
be inferred.[40]

This method is mostly obsolete as of 2023.[61]

Chain-termination methods
The chain-termination method developed by Frederick Sanger and coworkers in 1977
soon became the method of choice, owing to its relative ease and reliability.[39][62]
When invented, the chain-terminator method used fewer toxic chemicals and lower
amounts of radioactivity than the Maxam and Gilbert method. Because of its
comparative ease, the Sanger method was soon automated and was the method
used in the first generation of DNA sequencers.

Sanger sequencing is the method which prevailed from the 1980s until the mid-
2000s. Over that period, great advances were made in the technique, such as
fluorescent labelling, capillary electrophoresis, and general automation. These
developments allowed much more efficient sequencing, leading to lower costs. The
Sanger method, in mass production form, is the technology which produced the first
human genome in 2001, ushering in the age of genomics. However, later in the
decade, radically different approaches reached the market, bringing the cost per
genome down from $100 million in 2001 to $10,000 in 2011.[63]

Sequencing by synthesis
The objective for sequential sequencing by synthesis (SBS) is to determine the
sequencing of a DNA sample by detecting the incorporation of a nucleotide by a DNA
polymerase. An engineered polymerase is used to synthesize a copy of a single
strand of DNA and the incorporation of each nucleotide is monitored. The principle of
real-time sequencing by synthesis was first described in 1993[64] with improvements
published some years later.[65] The key parts are highly similar for all embodiments of
SBS and includes (1) amplification of DNA (to enhance the subsequent signal) and
attach the DNA to be sequenced to a solid support, (2) generation of single stranded
DNA on the solid support, (3) incorporation of nucleotides using an engineered
polymerase and (4) real-time detection of the incorporation of nucleotide The steps 3-
4 are repeated and the sequence is assembled from the signals obtained in step 4.
This principle of real-time sequencing-by-synthesis has been used for almost all
massive parallel sequencing instruments, including 454, PacBio, IonTorrent, Illumina
and MGI.
Large-scale sequencing
and de novo sequencing

Genomic DNA is fragmented into

random pieces and cloned as a
bacterial library. DNA from individual
bacterial clones is sequenced and the
sequence is assembled by using
overlapping DNA regions.

Large-scale sequencing often aims at sequencing very long DNA pieces, such as
whole chromosomes, although large-scale sequencing can also be used to generate
very large numbers of short sequences, such as found in phage display. For longer
targets such as chromosomes, common approaches consist of cutting (with
restriction enzymes) or shearing (with mechanical forces) large DNA fragments into
shorter DNA fragments. The fragmented DNA may then be cloned into a DNA vector
and amplified in a bacterial host such as Escherichia coli. Short DNA fragments
purified from individual bacterial colonies are individually sequenced and assembled
electronically into one long, contiguous sequence. Studies have shown that adding a
size selection step to collect DNA fragments of uniform size can improve sequencing
efficiency and accuracy of the genome assembly. In these studies, automated sizing
has proven to be more reproducible and precise than manual gel sizing.[66][67][68]
The term "de novo sequencing" specifically refers to methods used to determine the
sequence of DNA with no previously known sequence. De novo translates from Latin
as "from the beginning". Gaps in the assembled sequence may be filled by primer
walking. The different strategies have different tradeoffs in speed and accuracy;
shotgun methods are often used for sequencing large genomes, but its assembly is
complex and difficult, particularly with sequence repeats often causing gaps in
genome assembly.

Most sequencing approaches use an in vitro cloning step to amplify individual DNA
molecules, because their molecular detection methods are not sensitive enough for
single molecule sequencing. Emulsion PCR[69] isolates individual DNA molecules
along with primer-coated beads in aqueous droplets within an oil phase. A
polymerase chain reaction (PCR) then coats each bead with clonal copies of the DNA
molecule followed by immobilization for later sequencing. Emulsion PCR is used in
the methods developed by Marguilis et al. (commercialized by 454 Life Sciences),
Shendure and Porreca et al. (also known as "polony sequencing") and SOLiD
sequencing, (developed by Agencourt, later Applied Biosystems, now Life
Technologies).[70][71][72] Emulsion PCR is also used in the GemCode and Chromium
platforms developed by 10x Genomics.[73]

Shotgun sequencing
Shotgun sequencing is a sequencing method designed for analysis of DNA
sequences longer than 1000 base pairs, up to and including entire chromosomes.
This method requires the target DNA to be broken into random fragments. After
sequencing individual fragments using the chain termination method, the sequences
can be reassembled on the basis of their overlapping regions.[74]

High-throughput methods
 Multiple, fragmented sequence reads
must be assembled together on the
basis of their overlapping areas.

High-throughput sequencing, which includes next-generation "short-read" and third-

generation "long-read" sequencing methods,[nt 1] applies to exome sequencing,
genome sequencing, genome resequencing, transcriptome profiling (RNA-Seq), DNA-
protein interactions (ChIP-sequencing), and epigenome characterization.[75]

The high demand for low-cost sequencing has driven the development of high-
throughput sequencing technologies that parallelize the sequencing process,
producing thousands or millions of sequences concurrently.[76][77][78] High-throughput
sequencing technologies are intended to lower the cost of DNA sequencing beyond
what is possible with standard dye-terminator methods.[79] In ultra-high-throughput
sequencing as many as 500,000 sequencing-by-synthesis operations may be run in
parallel.[80][81][82] Such technologies led to the ability to sequence an entire human
genome in as little as one day.[83] As of 2019, corporate leaders in the development of
high-throughput sequencing products included Illumina, Qiagen and ThermoFisher
Scientific.[83]
Comparison of high-throughput sequencing methods[84][85]

Accuracy
(single
Method Read length
read not
consensus

Single-
molecule real-
30,000 bp 87% raw-
time
(N50); read
sequencing maximum read length
>100,000 bases[86][87][88] accuracy[89
(Pacific
Biosciences)

Ion
semiconductor up to 600
99.6%[95]
(Ion Torrent bp[94]
sequencing)

Pyrosequencing 700 bp 99.9%

(454)
 MiniSeq,
NextSeq:
Sequencing by 75–300 bp;
99.9%
synthesis MiSeq: 50–600 bp;

HiSeq 2500: 50–500 bp;

(Phred30)
(Illumina)
HiSeq 3/4000: 50–300
bp;

HiSeq X: 300 bp

Combinatorial BGISEQ-50: 99.9%

probe anchor 35-50bp; (Phred30)
synthesis MGISEQ 200: 50-200bp;

BGISEQ-500, MGISEQ-
(cPAS- 2000: 50-300bp[97]

BGI/MGI)
Sequencing by
50+35 or
ligation (SOLiD 99.9%
50+50 bp
sequencing)

Nanopore Dependent ~92–97%

Sequencing on library single read
preparation,
not the
device, so
 user
chooses
read length
(up to
2,272,580
bp
reported[99]).

Around 150
GenapSys 99.9%
bp single-
Sequencing (Phred30)
end

Chain 400 to 900 99.9%

termination bp
(Sanger
sequencing)
Long-read sequencing methods

Single molecule real time (SMRT)

sequencing
SMRT sequencing is based on the sequencing by synthesis approach. The DNA is
synthesized in zero-mode wave-guides (ZMWs) – small well-like containers with the
capturing tools located at the bottom of the well. The sequencing is performed with
use of unmodified polymerase (attached to the ZMW bottom) and fluorescently
labelled nucleotides flowing freely in the solution. The wells are constructed in a way
that only the fluorescence occurring by the bottom of the well is detected. The
fluorescent label is detached from the nucleotide upon its incorporation into the DNA
strand, leaving an unmodified DNA strand. According to Pacific Biosciences (PacBio),
the SMRT technology developer, this methodology allows detection of nucleotide
modifications (such as cytosine methylation). This happens through the observation
of polymerase kinetics. This approach allows reads of 20,000 nucleotides or more,
with average read lengths of 5 kilobases.[90][100] In 2015, Pacific Biosciences
announced the launch of a new sequencing instrument called the Sequel System, with
1 million ZMWs compared to 150,000 ZMWs in the PacBio RS II instrument.[101][102]
SMRT sequencing is referred to as "third-generation" or "long-read" sequencing.

Nanopore DNA sequencing

The DNA passing through the nanopore changes its ion current. This change is
dependent on the shape, size and length of the DNA sequence. Each type of the
nucleotide blocks the ion flow through the pore for a different period of time. The
method does not require modified nucleotides and is performed in real time.
Nanopore sequencing is referred to as "third-generation" or "long-read" sequencing,
along with SMRT sequencing.

Early industrial research into this method was based on a technique called
'exonuclease sequencing', where the readout of electrical signals occurred as
nucleotides passed by alpha(α)-hemolysin pores covalently bound with
cyclodextrin.[103] However the subsequent commercial method, 'strand sequencing',
sequenced DNA bases in an intact strand.

Two main areas of nanopore sequencing in development are solid state nanopore
sequencing, and protein based nanopore sequencing. Protein nanopore sequencing
utilizes membrane protein complexes such as α-hemolysin, MspA (Mycobacterium
smegmatis Porin A) or CssG, which show great promise given their ability to
distinguish between individual and groups of nucleotides.[104] In contrast, solid-state
nanopore sequencing utilizes synthetic materials such as silicon nitride and
aluminum oxide and it is preferred for its superior mechanical ability and thermal and
chemical stability.[105] The fabrication method is essential for this type of sequencing
given that the nanopore array can contain hundreds of pores with diameters smaller
than eight nanometers.[104]

The concept originated from the idea that single stranded DNA or RNA molecules can
be electrophoretically driven in a strict linear sequence through a biological pore that
can be less than eight nanometers, and can be detected given that the molecules
release an ionic current while moving through the pore. The pore contains a detection
region capable of recognizing different bases, with each base generating various time
specific signals corresponding to the sequence of bases as they cross the pore which
are then evaluated.[105] Precise control over the DNA transport through the pore is
crucial for success. Various enzymes such as exonucleases and polymerases have
been used to moderate this process by positioning them near the pore's entrance.[106]

Short-read sequencing methods

Massively parallel signature

sequencing (MPSS)
The first of the high-throughput sequencing technologies, massively parallel signature
sequencing (or MPSS, also called next generation sequencing), was developed in the
1990s at Lynx Therapeutics, a company founded in 1992 by Sydney Brenner and Sam
Eletr. MPSS was a bead-based method that used a complex approach of adapter
ligation followed by adapter decoding, reading the sequence in increments of four
nucleotides. This method made it susceptible to sequence-specific bias or loss of
specific sequences. Because the technology was so complex, MPSS was only
performed 'in-house' by Lynx Therapeutics and no DNA sequencing machines were
sold to independent laboratories. Lynx Therapeutics merged with Solexa (later
acquired by Illumina) in 2004, leading to the development of sequencing-by-synthesis,
a simpler approach acquired from Manteia Predictive Medicine, which rendered
MPSS obsolete. However, the essential properties of the MPSS output were typical of
later high-throughput data types, including hundreds of thousands of short DNA
sequences. In the case of MPSS, these were typically used for sequencing cDNA for
measurements of gene expression levels.[60]

Polony sequencing
The polony sequencing method, developed in the laboratory of George M. Church at
Harvard, was among the first high-throughput sequencing systems and was used to
sequence a full E. coli genome in 2005.[107] It combined an in vitro paired-tag library
with emulsion PCR, an automated microscope, and ligation-based sequencing
chemistry to sequence an E. coli genome at an accuracy of >99.9999% and a cost
approximately 1/9 that of Sanger sequencing.[107] The technology was licensed to
Agencourt Biosciences, subsequently spun out into Agencourt Personal Genomics,
and eventually incorporated into the Applied Biosystems SOLiD platform. Applied
Biosystems was later acquired by Life Technologies, now part of Thermo Fisher
Scientific.

454 pyrosequencing
A parallelized version of pyrosequencing was developed by 454 Life Sciences, which
has since been acquired by Roche Diagnostics. The method amplifies DNA inside
water droplets in an oil solution (emulsion PCR), with each droplet containing a single
DNA template attached to a single primer-coated bead that then forms a clonal
colony. The sequencing machine contains many picoliter-volume wells each
containing a single bead and sequencing enzymes. Pyrosequencing uses luciferase
to generate light for detection of the individual nucleotides added to the nascent DNA,
and the combined data are used to generate sequence reads.[70] This technology
provides intermediate read length and price per base compared to Sanger sequencing
on one end and Solexa and SOLiD on the other.[79]

Illumina (Solexa) sequencing

Solexa, now part of Illumina, was founded by Shankar Balasubramanian and David
Klenerman in 1998, and developed a sequencing method based on reversible dye-
terminators technology, and engineered polymerases.[108] The reversible terminated
chemistry concept was invented by Bruno Canard and Simon Sarfati at the Pasteur
Institute in Paris.[109][110] It was developed internally at Solexa by those named on the
relevant patents. In 2004, Solexa acquired the company Manteia Predictive Medicine
in order to gain a massively parallel sequencing technology invented in 1997 by
Pascal Mayer and Laurent Farinelli.[57] It is based on "DNA clusters" or "DNA colonies",
which involves the clonal amplification of DNA on a surface. The cluster technology
was co-acquired with Lynx Therapeutics of California. Solexa Ltd. later merged with
f l
 An Illumina HiSeq 2500 sequencer

Illumina NovaSeq 6000 flow cell

In this method, DNA molecules and primers are first attached on a slide or flow cell
and amplified with polymerase so that local clonal DNA colonies, later coined "DNA
clusters", are formed. To determine the sequence, four types of reversible terminator
bases (RT-bases) are added and non-incorporated nucleotides are washed away. A
camera takes images of the fluorescently labeled nucleotides. Then the dye, along
with the terminal 3' blocker, is chemically removed from the DNA, allowing for the next
cycle to begin. Unlike pyrosequencing, the DNA chains are extended one nucleotide at
a time and image acquisition can be performed at a delayed moment, allowing for
very large arrays of DNA colonies to be captured by sequential images taken from a
single camera.

An Illumina MiSeq sequencer

Decoupling the enzymatic reaction and the image capture allows for optimal
throughput and theoretically unlimited sequencing capacity. With an optimal
configuration, the ultimately reachable instrument throughput is thus dictated solely
by the analog-to-digital conversion rate of the camera, multiplied by the number of
cameras and divided by the number of pixels per DNA colony required for visualizing
them optimally (approximately 10 pixels/colony). In 2012, with cameras operating at
more than 10 MHz A/D conversion rates and available optics, fluidics and enzymatics,
throughput can be multiples of 1 million nucleotides/second, corresponding roughly
to 1 human genome equivalent at 1x coverage per hour per instrument, and 1 human
genome re-sequenced (at approx. 30x) per day per instrument (equipped with a single
camera).[111]

Combinatorial probe anchor

synthesis (cPAS)
This method is an upgraded modification to combinatorial probe anchor ligation
technology (cPAL) described by Complete Genomics[112] which has since become
part of Chinese genomics company BGI in 2013.[113] The two companies have refined
the technology to allow for longer read lengths, reaction time reductions and faster
time to results. In addition, data are now generated as contiguous full-length reads in
the standard FASTQ file format and can be used as-is in most short-read-based
bioinformatics analysis pipelines.[114]

The two technologies that form the basis for this high-throughput sequencing
technology are DNA nanoballs (DNB) and patterned arrays for nanoball attachment to
a solid surface.[112] DNA nanoballs are simply formed by denaturing double stranded,
adapter ligated libraries and ligating the forward strand only to a splint
oligonucleotide to form a ssDNA circle. Faithful copies of the circles containing the
DNA insert are produced utilizing Rolling Circle Amplification that generates
approximately 300–500 copies. The long strand of ssDNA folds upon itself to
produce a three-dimensional nanoball structure that is approximately 220 nm in
diameter. Making DNBs replaces the need to generate PCR copies of the library on the
flow cell and as such can remove large proportions of duplicate reads, adapter-
adapter ligations and PCR induced errors.[114]
 A BGI MGISEQ-2000RS sequencer

The patterned array of positively charged spots is fabricated through

photolithography and etching techniques followed by chemical modification to
generate a sequencing flow cell. Each spot on the flow cell is approximately 250 nm
in diameter, are separated by 700 nm (centre to centre) and allows easy attachment
of a single negatively charged DNB to the flow cell and thus reducing under or over-
clustering on the flow cell.[112]

Sequencing is then performed by addition of an oligonucleotide probe that attaches

in combination to specific sites within the DNB. The probe acts as an anchor that then
allows one of four single reversibly inactivated, labelled nucleotides to bind after
flowing across the flow cell. Unbound nucleotides are washed away before laser
excitation of the attached labels then emit fluorescence and signal is captured by
cameras that is converted to a digital output for base calling. The attached base has
its terminator and label chemically cleaved at completion of the cycle. The cycle is
repeated with another flow of free, labelled nucleotides across the flow cell to allow
the next nucleotide to bind and have its signal captured. This process is completed a
number of times (usually 50 to 300 times) to determine the sequence of the inserted
piece of DNA at a rate of approximately 40 million nucleotides per second as of 2018.

SOLiD sequencing
 Library preparation for the SOLiD
platform

Two-base encoding scheme. In two-

base encoding, each unique pair of
bases on the 3' end of the probe is
assigned one out of four possible
colors. For example, "AA" is assigned
to blue, "AC" is assigned to green, and
so on for all 16 unique pairs. During
sequencing, each base in the
template is sequenced twice, and the
resulting data are decoded according
to this scheme.

Applied Biosystems' (now a Life Technologies brand) SOLiD technology employs

sequencing by ligation. Here, a pool of all possible oligonucleotides of a fixed length
are labeled according to the sequenced position. Oligonucleotides are annealed and
ligated; the preferential ligation by DNA ligase for matching sequences results in a
signal informative of the nucleotide at that position. Each base in the template is
sequenced twice, and the resulting data are decoded according to the 2 base
encoding scheme used in this method. Before sequencing, the DNA is amplified by
emulsion PCR. The resulting beads, each containing single copies of the same DNA
molecule, are deposited on a glass slide.[115] The result is sequences of quantities
and lengths comparable to Illumina sequencing.[79] This sequencing by ligation
method has been reported to have some issue sequencing palindromic sequences.[98]

Ion Torrent semiconductor

sequencing
Ion Torrent Systems Inc. (now owned by Life Technologies) developed a system
based on using standard sequencing chemistry, but with a novel, semiconductor-
based detection system. This method of sequencing is based on the detection of
hydrogen ions that are released during the polymerisation of DNA, as opposed to the
optical methods used in other sequencing systems. A microwell containing a
template DNA strand to be sequenced is flooded with a single type of nucleotide. If
the introduced nucleotide is complementary to the leading template nucleotide it is
incorporated into the growing complementary strand. This causes the release of a
hydrogen ion that triggers a hypersensitive ion sensor, which indicates that a reaction
has occurred. If homopolymer repeats are present in the template sequence, multiple
nucleotides will be incorporated in a single cycle. This leads to a corresponding
number of released hydrogens and a proportionally higher electronic signal.[116]

Sequencing of the TAGGCT template

with IonTorrent, PacBioRS and
GridION
DNA nanoball sequencing
DNA nanoball sequencing is a type of high throughput sequencing technology used to
determine the entire genomic sequence of an organism. The company Complete
Genomics uses this technology to sequence samples submitted by independent
researchers. The method uses rolling circle replication to amplify small fragments of
genomic DNA into DNA nanoballs. Unchained sequencing by ligation is then used to
determine the nucleotide sequence.[117] This method of DNA sequencing allows large
numbers of DNA nanoballs to be sequenced per run and at low reagent costs
compared to other high-throughput sequencing platforms.[118] However, only short
sequences of DNA are determined from each DNA nanoball which makes mapping
the short reads to a reference genome difficult.[117]

Heliscope single molecule

sequencing
Heliscope sequencing is a method of single-molecule sequencing developed by
Helicos Biosciences. It uses DNA fragments with added poly-A tail adapters which are
attached to the flow cell surface. The next steps involve extension-based sequencing
with cyclic washes of the flow cell with fluorescently labeled nucleotides (one
nucleotide type at a time, as with the Sanger method). The reads are performed by the
Heliscope sequencer.[119][120] The reads are short, averaging 35 bp.[121] What made
this technology especially novel was that it was the first of its class to sequence non-
amplified DNA, thus preventing any read errors associated with amplification
steps.[122] In 2009 a human genome was sequenced using the Heliscope, however in
2012 the company went bankrupt.[123]

Microfluidic Systems
There are two main microfluidic systems that are used to sequence DNA; droplet
based microfluidics and digital microfluidics. Microfluidic devices solve many of the
current limitations of current sequencing arrays.
Abate et al. studied the use of droplet-based microfluidic devices for DNA
sequencing.[4] These devices have the ability to form and process picoliter sized
droplets at the rate of thousands per second. The devices were created from
polydimethylsiloxane (PDMS) and used Forster resonance energy transfer, FRET
assays to read the sequences of DNA encompassed in the droplets. Each position on
the array tested for a specific 15 base sequence.[4]

Fair et al. used digital microfluidic devices to study DNA pyrosequencing.[124]

Significant advantages include the portability of the device, reagent volume, speed of
analysis, mass manufacturing abilities, and high throughput. This study provided a
proof of concept showing that digital devices can be used for pyrosequencing; the
study included using synthesis, which involves the extension of the enzymes and
addition of labeled nucleotides.[124]

Boles et al. also studied pyrosequencing on digital microfluidic devices.[125] They

used an electro-wetting device to create, mix, and split droplets. The sequencing uses
a three-enzyme protocol and DNA templates anchored with magnetic beads. The
device was tested using two protocols and resulted in 100% accuracy based on raw
pyrogram levels. The advantages of these digital microfluidic devices include size,
cost, and achievable levels of functional integration.[125]

DNA sequencing research, using microfluidics, also has the ability to be applied to the
sequencing of RNA, using similar droplet microfluidic techniques, such as the
method, inDrops.[126] This shows that many of these DNA sequencing techniques will
be able to be applied further and be used to understand more about genomes and
transcriptomes.

Methods in development
DNA sequencing methods currently under development include reading the sequence
as a DNA strand transits through nanopores (a method that is now commercial but
subsequent generations such as solid-state nanopores are still in
development),[127][128] and microscopy-based techniques, such as atomic force
microscopy or transmission electron microscopy that are used to identify the
positions of individual nucleotides within long DNA fragments (>5,000 bp) by
nucleotide labeling with heavier elements (e.g., halogens) for visual detection and
recording.[129][130] Third generation technologies aim to increase throughput and
decrease the time to result and cost by eliminating the need for excessive reagents
and harnessing the processivity of DNA polymerase.[131]

Tunnelling currents DNA

sequencing
Another approach uses measurements of the electrical tunnelling currents across
single-strand DNA as it moves through a channel. Depending on its electronic
structure, each base affects the tunnelling current differently,[132] allowing
differentiation between different bases.[133]

The use of tunnelling currents has the potential to sequence orders of magnitude
faster than ionic current methods and the sequencing of several DNA oligomers and
micro-RNA has already been achieved.[134]

Sequencing by hybridization
Sequencing by hybridization is a non-enzymatic method that uses a DNA microarray. A
single pool of DNA whose sequence is to be determined is fluorescently labeled and
hybridized to an array containing known sequences. Strong hybridization signals from
a given spot on the array identifies its sequence in the DNA being sequenced.[135]

This method of sequencing utilizes binding characteristics of a library of short single

stranded DNA molecules (oligonucleotides), also called DNA probes, to reconstruct a
target DNA sequence. Non-specific hybrids are removed by washing and the target
DNA is eluted.[136] Hybrids are re-arranged such that the DNA sequence can be
reconstructed The benefit of this sequencing type is its ability to capture a large
number of targets with a homogenous coverage.[137] A large number of chemicals
and starting DNA is usually required. However, with the advent of solution-based
hybridization, much less equipment and chemicals are necessary.[136]

Sequencing with mass

spectrometry
Mass spectrometry may be used to determine DNA sequences. Matrix-assisted laser
desorption ionization time-of-flight mass spectrometry, or MALDI-TOF MS, has
specifically been investigated as an alternative method to gel electrophoresis for
visualizing DNA fragments. With this method, DNA fragments generated by chain-
termination sequencing reactions are compared by mass rather than by size. The
mass of each nucleotide is different from the others and this difference is detectable
by mass spectrometry. Single-nucleotide mutations in a fragment can be more easily
detected with MS than by gel electrophoresis alone. MALDI-TOF MS can more easily
detect differences between RNA fragments, so researchers may indirectly sequence
DNA with MS-based methods by converting it to RNA first.[138]

The higher resolution of DNA fragments permitted by MS-based methods is of special

interest to researchers in forensic science, as they may wish to find single-nucleotide
polymorphisms in human DNA samples to identify individuals. These samples may be
highly degraded so forensic researchers often prefer mitochondrial DNA for its higher
stability and applications for lineage studies. MS-based sequencing methods have
been used to compare the sequences of human mitochondrial DNA from samples in
a Federal Bureau of Investigation database[139] and from bones found in mass graves
of World War I soldiers.[140]

Early chain-termination and TOF MS methods demonstrated read lengths of up to 100

base pairs.[141] Researchers have been unable to exceed this average read size; like
chain-termination sequencing alone, MS-based DNA sequencing may not be suitable
for large de novo sequencing projects. Even so, a recent study did use the short
sequence reads and mass spectroscopy to compare single-nucleotide
l hi i h i S i [142]
Microfluidic Sanger sequencing
In microfluidic Sanger sequencing the entire thermocycling amplification of DNA
fragments as well as their separation by electrophoresis is done on a single glass
wafer (approximately 10 cm in diameter) thus reducing the reagent usage as well as
cost.[143] In some instances researchers have shown that they can increase the
throughput of conventional sequencing through the use of microchips.[144] Research
will still need to be done in order to make this use of technology effective.

Microscopy-based techniques
This approach directly visualizes the sequence of DNA molecules using electron
microscopy. The first identification of DNA base pairs within intact DNA molecules by
enzymatically incorporating modified bases, which contain atoms of increased
atomic number, direct visualization and identification of individually labeled bases
within a synthetic 3,272 base-pair DNA molecule and a 7,249 base-pair viral genome
has been demonstrated.[145]

RNAP sequencing
This method is based on use of RNA polymerase (RNAP), which is attached to a
polystyrene bead. One end of DNA to be sequenced is attached to another bead, with
both beads being placed in optical traps. RNAP motion during transcription brings the
beads in closer and their relative distance changes, which can then be recorded at a
single nucleotide resolution The sequence is deduced based on the four readouts
with lowered concentrations of each of the four nucleotide types, similarly to the
Sanger method.[146] A comparison is made between regions and sequence
information is deduced by comparing the known sequence regions to the unknown
sequence regions.[147]

In vitro virus high-throughput

sequencing
A method has been developed to analyze full sets of protein interactions using a
combination of 454 pyrosequencing and an in vitro virus mRNA display method.
Specifically, this method covalently links proteins of interest to the mRNAs encoding
them, then detects the mRNA pieces using reverse transcription PCRs. The mRNA
may then be amplified and sequenced. The combined method was titled IVV-HiTSeq
and can be performed under cell-free conditions, though its results may not be
representative of in vivo conditions.[148]

Market share
While there are many different ways to sequence DNA, only a few dominate the
market. In 2022, Illumina had about 80% of the market; the rest of the market is taken
by only a few players (PacBio, Oxford, 454, MGI)[149]

Sample preparation
The success of any DNA sequencing protocol relies upon the DNA or RNA sample
extraction and preparation from the biological material of interest.
 A successful DNA extraction will
yield a DNA sample with long, non-
degraded strands.
A successful RNA extraction will
yield a RNA sample that should be
converted to complementary DNA
(cDNA) using reverse transcriptase
—a DNA polymerase that
synthesizes a complementary DNA
based on existing strands of RNA in
a PCR-like manner.[150]
Complementary DNA can then be
processed the same way as
genomic DNA.
After DNA or RNA extraction, samples may require further preparation depending on
the sequencing method. For Sanger sequencing, either cloning procedures or PCR are
required prior to sequencing. In the case of next-generation sequencing methods,
library preparation is required before processing.[151] Assessing the quality and
quantity of nucleic acids both after extraction and after library preparation identifies
degraded, fragmented, and low-purity samples and yields high-quality sequencing
data.[152]

Development initiatives

Total cost of sequencing a human genome over

time as calculated by the NHGRI.

In October 2006, the X Prize Foundation established an initiative to promote the

development of full genome sequencing technologies, called the Archon X Prize,
intending to award $10 million to "the first Team that can build a device and use it to
sequence 100 human genomes within 10 days or less, with an accuracy of no more
than one error in every 100,000 bases sequenced, with sequences accurately covering
at least 98% of the genome, and at a recurring cost of no more than $10,000 (US) per
genome."[153]

Each year the National Human Genome Research Institute, or NHGRI, promotes
grants for new research and developments in genomics. 2010 grants and 2011
candidates include continuing work in microfluidic, polony and base-heavy
sequencing methodologies.[154]

Computational challenges
The sequencing technologies described here produce raw data that needs to be
assembled into longer sequences such as complete genomes (sequence assembly).
There are many computational challenges to achieve this, such as the evaluation of
the raw sequence data which is done by programs and algorithms such as Phred and
Phrap. Other challenges have to deal with repetitive sequences that often prevent
complete genome assemblies because they occur in many places of the genome. As
a consequence, many sequences may not be assigned to particular chromosomes.
The production of raw sequence data is only the beginning of its detailed
bioinformatical analysis.[155] Yet new methods for sequencing and correcting
sequencing errors were developed.[156]

Read trimming
Sometimes, the raw reads produced by the sequencer are correct and precise only in
a fraction of their length. Using the entire read may introduce artifacts in the
downstream analyses like genome assembly, SNP calling, or gene expression
estimation. Two classes of trimming programs have been introduced, based on the
window-based or the running-sum classes of algorithms.[157] This is a partial list of
the trimming algorithms currently available, specifying the algorithm class they
belong to:
Read Trimming Algorithms

Name of algorithm Type of algorithm

Cutadapt[158] Running sum

ConDeTri[159] Window based

ERNE-FILTER[160] Running sum

FASTX quality trimmer Window based

PRINSEQ[161] Window based

Trimmomatic[162] Window based

SolexaQA[163] Window based

SolexaQA-BWA Running sum

Sickle Window based

Ethical issues
Human genetics have been included within the field of bioethics since the early
1970s[164] and the growth in the use of DNA sequencing (particularly high-throughput
sequencing) has introduced a number of ethical issues. One key issue is the
ownership of an individual's DNA and the data produced when that DNA is
sequenced.[165] Regarding the DNA molecule itself, the leading legal case on this
topic, Moore v. Regents of the University of California (1990) ruled that individuals have
no property rights to discarded cells or any profits made using these cells (for
instance, as a patented cell line). However, individuals have a right to informed
consent regarding removal and use of cells. Regarding the data produced through
DNA sequencing, Moore gives the individual no rights to the information derived from
their DNA.[165]

As DNA sequencing becomes more widespread, the storage, security and sharing of
genomic data has also become more important.[165][166] For instance, one concern is
that insurers may use an individual's genomic data to modify their quote, depending
on the perceived future health of the individual based on their DNA.[166][167] In May
2008, the Genetic Information Nondiscrimination Act (GINA) was signed in the United
States, prohibiting discrimination on the basis of genetic information with respect to
health insurance and employment.[168][169] In 2012, the US Presidential Commission
for the Study of Bioethical Issues reported that existing privacy legislation for DNA
sequencing data such as GINA and the Health Insurance Portability and
Accountability Act were insufficient, noting that whole-genome sequencing data was
particularly sensitive, as it could be used to identify not only the individual from which
the data was created, but also their relatives.[170][171]

In most of the United States, DNA that is "abandoned", such as that found on a licked
stamp or envelope, coffee cup, cigarette, chewing gum, household trash, or hair that
has fallen on a public sidewalk, may legally be collected and sequenced by anyone,
including the police, private investigators, political opponents, or people involved in
paternity disputes. As of 2013, eleven states have laws that can be interpreted to
prohibit "DNA theft".[172]

Ethical issues have also been raised by the increasing use of genetic variation
screening, both in newborns, and in adults by companies such as 23andMe.[173][174] It
has been asserted that screening for genetic variations can be harmful, increasing
anxiety in individuals who have been found to have an increased risk of disease.[175]
For example, in one case noted in Time, doctors screening an ill baby for genetic
variants chose not to inform the parents of an unrelated variant linked to dementia
due to the harm it would cause to the parents.[176] However, a 2011 study in The New
England Journal of Medicine has shown that individuals undergoing disease risk
profiling did not show increased levels of anxiety.[175] Also, the development of Next
Generation sequencing technologies such as Nanopore based sequencing has also
raised further ethical concerns.[177]

See also

Bioinformatics – Computational
analysis of large, complex sets of
biological data
Cancer genome sequencing
Circular consensus sequencing
DNA computing – Computing using
molecular biology hardware
DNA field-effect transistor –
transistor which uses the field-
effect due to the partial charges of
DNA
DNA sequencing theory –
Biological theory
DNA sequencer – A scientific
instrument used to automate the
DNA sequencing process
Genographic Project – Citizen
science project
Genome project – Scientific
endeavours to determine the
complete genome sequence of an
organism
Genome sequencing of endangered
species – DNA testing for
endangerment assessment
Genome skimming – Method of
genome sequencing
IsoBase – Functionally related
proteins across PPI networks
Linked-read sequencing
Jumping library
Nucleic acid sequence –
Succession of nucleotides in a
nucleic acid
Multiplex ligation-dependent probe
amplification
Personalized medicine – Medical
model that tailors medical
practices to the individual patient
Protein sequencing – Sequencing
of amino acid arrangement in a
protein
Sequence mining
Sequence profiling tool
 Sequencing by hybridization –
method for determining the
constituent nucleotides of a fixed
size in a strand of DNA
Sequencing by ligation – DNA
sequencing method that uses the
enzyme DNA ligase to identify the
nucleotide present at a given
position in a DNA sequence
TIARA (database) – Database of
personal genomics information
Transmission electron microscopy
DNA sequencing – Single-molecule
sequencing technology

Notes
1. "Next-generation" remains in
broad use as of 2019. For
instance, Straiton J, Free T,
Sawyer A, Martin J (February
2019). "From Sanger Sequencing
to Genome Databases and
Beyond" (https://doi.org/10.214
4%2Fbtn-2019-0011) .
BioTechniques. 66 (2): 60–63.
doi:10.2144/btn-2019-0011 (http
s://doi.org/10.2144%2Fbtn-2019-
0011) . PMID 30744413 (https://p
ubmed.ncbi.nlm.nih.gov/307444
13) . "Next-generation
sequencing (NGS) technologies
have revolutionized genomic
 research. (opening sentence of
the article)"

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External links

Library resources about

DNA sequencing

Resources in your library (https://ftl.to

olforge.org/cgi-bin/ftl?st=wp&su=DNA
+sequencing)
Resources in other libraries (https://ftl.
toolforge.org/cgi-bin/ftl?st=wp&su=DN
A+sequencing&library=0CHOOSE0)
A wikibook on next generation
sequencing

Portal: Biology

Retrieved from
"https://en.wikipedia.org/w/index.php?
title=DNA_sequencing&oldid=1242799157"

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