Synonymous ADHFE1 Variation Shapes Population Tolerability of the Deleterious ALDH2 rs671 Allele

This study identifies population-specific common and rare genetic variants by analyzing allele frequency differences across populations using gnomAD v2.1.1 exome sequencing data. We developed a customized filtering pipeline that performs rigorous quality control and stratified analysis across seven genetic ancestries: East Asian (EAS), South Asian (SAS), Non-Finnish European (NFE), Finnish (FIN), African (AFR), Admixed American (AMR), and Ashkenazi Jewish (ASJ).

Authors

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-03-02
DOI
https://doi.org/10.5281/zenodo.18832875
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00
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article

Synonymous ADHFE1 Variation Shapes Population Tolerability of the Deleterious ALDH2 rs671 Allele

Seike Takuya, Chen Che-Hong, Chang Yi-cheng, Mondel Abir et al.
Zenodo (CERN European Organization for Nuclear Research)
Genetic Associations and Epidemiology
article

Synonymous ADHFE1 Variation Shapes Population Tolerability of the Deleterious ALDH2 rs671 Allele

Seike Takuya, Chen Che-Hong, Chang Yi-cheng, Mondel Abir, Rosseto Renata, Che Tony Pan- Hou, Pokhrel Suman, Mochly-Rosen Daria
article en

Abstract

This study identifies population-specific common and rare genetic variants by analyzing allele frequency differences across populations using gnomAD v2.1.1 exome sequencing data. We developed a customized filtering pipeline that performs rigorous quality control and stratified analysis across seven genetic ancestries: East Asian (EAS), South Asian (SAS), Non-Finnish European (NFE), Finnish (FIN), African (AFR), Admixed American (AMR), and Ashkenazi Jewish (ASJ).

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 37%
Genetic Associations and Epidemiology
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