(Q34468572)

2 August 2017

title

Large-scale whole-genome sequencing of the Icelandic population (English)

1 reference

2 August 2017

0 references

whole genome sequencing

1 reference

inferred from title

author

Unnur Þorsteinsdóttir

45

Unnur Thorsteinsdottir

0 references

Solveig Gretarsdottir

21

Solveig Gretarsdottir

0 references

Hrefna Johannsdottir

17

Hrefna Johannsdottir

0 references

Olof Sigurdardottir

39

Olof Sigurdardottir

1 reference

2 August 2017

23

Thorunn Rafnar

1 reference

2 August 2017

Gyda Bjornsdottir

33

0 references

Augustine Kong

Augustine Kong

43

0 references

Patrick Sulem

47

Patrick Sulem

1 reference

2 August 2017

Daníel F. Guðbjartsson

1

Daniel F Gudbjartsson

1 reference

2 August 2017

48

Kari Stefansson

1 reference

2 August 2017

Hannes Helgason

2

1 reference

2 August 2017

Sigurjon A Gudjonsson

3

1 reference

2 August 2017

Florian Zink

4

1 reference

2 August 2017

Asmundur Oddson

5

1 reference

2 August 2017

Arnaldur Gylfason

6

1 reference

2 August 2017

Soren Besenbacher

7

1 reference

2 August 2017

Gisli Magnusson

8

1 reference

2 August 2017

Bjarni V Halldorsson

9

1 reference

2 August 2017

Eirikur Hjartarson

10

1 reference

2 August 2017

Gunnar Th Sigurdsson

11

1 reference

2 August 2017

Simon N Stacey

12

1 reference

2 August 2017

Michael L Frigge

13

1 reference

2 August 2017

Hilma Holm

14

1 reference

2 August 2017

Jona Saemundsdottir

15

1 reference

2 August 2017

Hafdis Th Helgadottir

16

1 reference

2 August 2017

Gunnlaugur Sigfusson

18

1 reference

2 August 2017

Gudmundur Thorgeirsson

19

1 reference

2 August 2017

Jon Th Sverrisson

20

1 reference

2 August 2017

G Bragi Walters

22

1 reference

2 August 2017

Bjarni Thjodleifsson

24

1 reference

2 August 2017

Einar S Bjornsson

25

1 reference

2 August 2017

Sigurdur Olafsson

26

1 reference

2 August 2017

Hildur Thorarinsdottir

27

1 reference

2 August 2017

Thora Steingrimsdottir

28

1 reference

2 August 2017

Thora S Gudmundsdottir

29

1 reference

2 August 2017

Asgeir Theodors

30

1 reference

2 August 2017

Jon G Jonasson

31

1 reference

2 August 2017

Asgeir Sigurdsson

32

1 reference

2 August 2017

Jon J Jonsson

34

1 reference

2 August 2017

Olafur Thorarensen

35

1 reference

2 August 2017

Petur Ludvigsson

36

1 reference

2 August 2017

Hakon Gudbjartsson

37

1 reference

2 August 2017

Gudmundur I Eyjolfsson

38

1 reference

2 August 2017

Isleifur Olafsson

40

1 reference

2 August 2017

David O Arnar

41

1 reference

2 August 2017

Olafur Th Magnusson

42

1 reference

2 August 2017

Gisli Masson

44

1 reference

2 August 2017

Agnar Helgason

46

1 reference

2 August 2017

language of work or name

English

0 references

publication date

25 March 2015

1 reference

2 August 2017

1 reference

2 August 2017

volume

47

1 reference

2 August 2017

issue

5

1 reference

2 August 2017

page(s)

435-444

1 reference

A second generation human haplotype map of over 3.1 million SNPs

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Identification of low-frequency variants associated with gout and serum uric acid levels

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Mutations in BRIP1 confer high risk of ovarian cancer

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Detection of sharing by descent, long-range phasing and haplotype imputation

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The Sequence Ontology: a tool for the unification of genome annotations

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Human-specific insertions and deletions inferred from mammalian genome sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Mendelian Inheritance in Man and its online version, OMIM

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Integrative annotation of variants from 1092 humans: application to cancer genomics

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

https://api.crossref.org/works/10.1038%2FNG.3247

1 reference

7 January 2021

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The types and prevalence of alternative splice forms

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Nonsense-mediated mRNA decay: terminating erroneous gene expression

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Genetic variation in a human odorant receptor alters odour perception

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The missense of smell: functional variability in the human odorant receptor repertoire.

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Distribution and intensity of constraint in mammalian genomic sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Deterministic mutation rate variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Gene ontology: tool for the unification of biology

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Reconstructing dynamic regulatory maps

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

An integrated encyclopedia of DNA elements in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A new multipoint method for genome-wide association studies by imputation of genotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

An Icelandic example of the impact of population structure on association studies

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Parental origin of sequence variants associated with complex diseases

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Genomic imprinting: implications for human disease

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Lifetime risk for development of atrial fibrillation: the Framingham Heart Study

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Human fetal muscle and cultured myotubes derived from it contain a fetal-specific myosin light chain

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Canalicular ABC transporters and liver disease

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Discovery of common variants associated with low TSH levels and thyroid cancer risk

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Brown-Vialetto-Van Laere syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1.

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Exome sequencing in Brown-Vialetto-van Laere syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A multi-subject, multi-modal human neuroimaging dataset

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

The human genome browser at UCSC

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

https://api.crossref.org/works/10.1038%2FNG.3247

1 reference

7 January 2021

Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Genome-wide nucleotide-level mammalian ancestor reconstruction

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Mapping and analysis of chromatin state dynamics in nine human cell types

1 reference

https://api.crossref.org/works/10.1038%2FNG.3247

7 January 2021

Identifiers

DOI

10.1038/NG.3247

1 reference

2 August 2017

1 reference