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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: Jun 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

LD-informed deep learning for Alzheimer's gene loci detection using WGS data.

Taeho Jo¹, Paula Bice¹, Kwangsik Nho^1,2

¹Indiana Alzheimer Disease Research Center and Center for Neuroimaging, Department of Radiology and Imaging Sciences Indiana University School of Medicine Indianapolis Indiana USA.

Alzheimer'S & Dementia (New York, N. Y.)

|January 17, 2025

Summary

Deep-Block, an AI framework, identifies genetic loci for Alzheimer's disease (AD) risk using whole genome sequencing data. It finds both known and novel variants, improving AD genetic architecture understanding.

Keywords:

Alzheimer's disease deep learning genetic loci imputation methods linkage disequilibrium whole‐genome sequencing

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Last Updated: Jun 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Author Spotlight: Advancing Alzheimer's Research – Exploring Early Detection and Multi-Omics Approaches

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Area of Science:

Genomics
Bioinformatics
Artificial Intelligence

Background:

Exponential growth in genomic data necessitates advanced analytical tools for identifying genetic loci.
Alzheimer's disease (AD) research requires efficient methods to analyze large-scale sequencing data for genetic risk factors.

Purpose of the Study:

To present Deep-Block, a multi-stage deep learning framework designed to identify genetic regions associated with Alzheimer's disease (AD).
To incorporate biological knowledge into an AI architecture for enhanced genetic analysis of high-throughput sequencing data.

Main Methods:

Genome segmentation using linkage disequilibrium (LD) patterns.
Sparse attention mechanisms for selecting relevant LD blocks.
TabNet and Random Forest algorithms for single nucleotide polymorphism (SNP) feature importance quantification.

Main Results:

Identification and ranking of 30,218 LD blocks based on AD relevance.
Detection of novel and confirmation of known AD-associated SNPs, including APOE rs429358.
Functional evidence for identified variants through expression Quantitative Trait Loci (eQTL) analysis across 13 brain regions.

Conclusions:

Deep-Block effectively processes large-scale sequencing data, preserving SNP interactions and minimizing information loss.
Identified variants show functional relevance supported by tissue-specific eQTL data.
The framework successfully identified known and novel genetic variants, advancing the understanding of AD's genetic architecture.