Genotyping transposable element insertions and their novel application in gene mapping strategies for Alzheimer’s disease (AD) endophenotypes

Our pragmatic approach using existing WGS data to genotype endogenous regulatory units for studying genetic underpinnings of preclinical AD markers identifies putatively novel disease-causal genes with clear biological function. As a proof of concept, our approach highlights the scope of extending to other cohorts and AD related neurodegenerative disorders.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.085920
Primary Topic
Chromosomal and Genetic Variations
Type
article
Field-Weighted Citation Impact
0.00
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article

Genotyping transposable element insertions and their novel application in gene mapping strategies for Alzheimer’s disease (AD) endophenotypes

Sudha S. Seshadri, Xueqiu Jian, Qiong Yang, Muralidharan Sargurupremraj et al.
Alzheimer s & Dementia
Chromosomal and Genetic Variations
article

Genotyping transposable element insertions and their novel application in gene mapping strategies for Alzheimer’s disease (AD) endophenotypes

Sudha S. Seshadri, Xueqiu Jian, Qiong Yang, Muralidharan Sargurupremraj, Jayandra J. Himali
article en

Abstract

Our pragmatic approach using existing WGS data to genotype endogenous regulatory units for studying genetic underpinnings of preclinical AD markers identifies putatively novel disease-causal genes with clear biological function. As a proof of concept, our approach highlights the scope of extending to other cohorts and AD related neurodegenerative disorders.

Alzheimer s & DementiaVol. 20(S1)
Boston University (US), The University of Texas at San Antonio Health Science Center (US), Framingham Heart Study (US)
Openalex Percentile: Top 85%
Chromosomal and Genetic Variations
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