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Renukappt

The document discusses the role of AI in genomic analysis, particularly in detecting genetic mutations and their impact on health. It highlights the types of genetic mutations, the benefits of using AI for improved accuracy in analyzing genomic data, and the potential for personalized medicine. The proposed work aims to enhance mutation impact predictions and develop new AI-driven models for better disease forecasting and drug discovery.

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Renuka
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4 views7 pages

Renukappt

The document discusses the role of AI in genomic analysis, particularly in detecting genetic mutations and their impact on health. It highlights the types of genetic mutations, the benefits of using AI for improved accuracy in analyzing genomic data, and the potential for personalized medicine. The proposed work aims to enhance mutation impact predictions and develop new AI-driven models for better disease forecasting and drug discovery.

Uploaded by

Renuka
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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AI-Powered Genomic Analysis

Revolutionizing the Detection of Genetic Mutations

Presented By,
RenukaDevi
Assistant Professor(Guest Faculty)
Dept.Of CSE
GEC Bidar
Introduction
1.Genetic Mutations & Their Impact
• What are Genetic Mutations?
• Alterations in DNA sequence which can occur naturally or due to external factors.
• Genetic Disorders Caused by Mutations:
• Monogenic Diseases (caused by mutations in a single gene)
• Approx. 10,000 inherited diseases
• Examples:Cystic Fibrosis,Huntington's Disease,Sickle Cell Anemia.
• Polygenic Disorders (involving multiple genes)
• Examples:Diabetes Mellitus,Hypertension,Schizophrenia,Cancer,Developmental Anomalies.
(e.g., congenital heart defects)

2.Types of Genetic Mutations:


• Point Mutations
• Insertions
• Deletions
• Duplications
• Inversions
AI in Genomic analysis
• AI plays a crucial role in genomic analysis
• Machine Learning (ML) & Deep Learning (DL) help process large
genetic datasets
• AI identifies patterns, makes predictions, and classifies genetic
variations
• AI models analyze genomic, gene expression, and epigenetic data
• Benefits: Improved accuracy, efficient analysis, novel mutation
identification
• AI integration with clinical data enables personalized medicine and
biomarker discovery
Methodology
Proposed Work
•AI predicts mutation impact on gene expression
•Prioritizes regulatory variants

•Future improvements:
•Enhance accuracy
•Extend models for genetic contexts
•Design new AI-driven models
Conclusion
•AI enables personalized medicine.

•Analyzes genomic data for disease risk & treatment


response.

•Creates precise models for disease forecasting.

•Integrates genetics & environmental factors.

•Supports drug discovery & development .


References
• Fu Z, et al. (2023). A Deep Learning Model Embedded Framework to Distinguish DNA and RNA
Mutations Directly from RNA-Seq. BioRxiv 2023.10.17.562625.
https://doi.org/10.1101/2023.10.17.562625
• Kircher M, et al. (2014). A general framework for estimating the relative pathogenicity of human
genetic variants. Nature Genetics, 46(3), 310–315. https://doi.org/10.1038/ng.2892
• Li R, et al. (2021). Machine learning meets OMICS: Applications and perspectives. Briefings in
Bioinformatics, 23(1). https://doi.org/10.1093/bib/bbab460
• Zhou J, et al. (2015). Predicting effects of noncoding variants with deep learning–based sequence
model. Nature Methods, 12(10), 931–934. https://doi.org/10.1038/nmeth.3547
• Zhou J, et al. (2018). Deep learning sequence-based ab initio prediction of variant effects on
expression and disease risk. Nature Genetics, 50(8), 1171–1179.
https://doi.org/10.1038/s41588-018-0160-6
• Genetic disorders. Genome.gov. (n.d.). [Online]
https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders (Accessed on October 2023)

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