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Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population

We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single nucleotide variant (SNV) alleles, human leukocyte antigens (...

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Autores principales: Markianos, Kyriacos, Dong, Frederic, Gorman, Bryan, Shi, Yunling, Dochtermann, Daniel, Saxena, Uma, Devineni, Poornima, Moser, Jennifer, Muralidhar, Sumitra, Ramoni, Rachel, Tsao, Philip, Pyarajan, Saiju, Przygodzki, Ronald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956596/
https://www.ncbi.nlm.nih.gov/pubmed/36827430
http://dx.doi.org/10.1371/journal.pone.0274339
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author Markianos, Kyriacos
Dong, Frederic
Gorman, Bryan
Shi, Yunling
Dochtermann, Daniel
Saxena, Uma
Devineni, Poornima
Moser, Jennifer
Muralidhar, Sumitra
Ramoni, Rachel
Tsao, Philip
Pyarajan, Saiju
Przygodzki, Ronald
author_facet Markianos, Kyriacos
Dong, Frederic
Gorman, Bryan
Shi, Yunling
Dochtermann, Daniel
Saxena, Uma
Devineni, Poornima
Moser, Jennifer
Muralidhar, Sumitra
Ramoni, Rachel
Tsao, Philip
Pyarajan, Saiju
Przygodzki, Ronald
author_sort Markianos, Kyriacos
collection PubMed
description We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single nucleotide variant (SNV) alleles, human leukocyte antigens (HLA) 4-digit alleles and an important copy number variant (CNV), the full deletion/duplication of CYP2D6. We compiled distinct allele frequency tables for European, African American, Hispanic, and Asian ancestry individuals. In addition, we compiled allele frequencies based on local ancestry reconstruction in the African-American (2-way deconvolution) and Hispanic (3-way deconvolution) cohorts.
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spelling pubmed-99565962023-02-25 Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population Markianos, Kyriacos Dong, Frederic Gorman, Bryan Shi, Yunling Dochtermann, Daniel Saxena, Uma Devineni, Poornima Moser, Jennifer Muralidhar, Sumitra Ramoni, Rachel Tsao, Philip Pyarajan, Saiju Przygodzki, Ronald PLoS One Research Article We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single nucleotide variant (SNV) alleles, human leukocyte antigens (HLA) 4-digit alleles and an important copy number variant (CNV), the full deletion/duplication of CYP2D6. We compiled distinct allele frequency tables for European, African American, Hispanic, and Asian ancestry individuals. In addition, we compiled allele frequencies based on local ancestry reconstruction in the African-American (2-way deconvolution) and Hispanic (3-way deconvolution) cohorts. Public Library of Science 2023-02-24 /pmc/articles/PMC9956596/ /pubmed/36827430 http://dx.doi.org/10.1371/journal.pone.0274339 Text en https://creativecommons.org/publicdomain/zero/1.0/This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 (https://creativecommons.org/publicdomain/zero/1.0/) public domain dedication.
spellingShingle Research Article
Markianos, Kyriacos
Dong, Frederic
Gorman, Bryan
Shi, Yunling
Dochtermann, Daniel
Saxena, Uma
Devineni, Poornima
Moser, Jennifer
Muralidhar, Sumitra
Ramoni, Rachel
Tsao, Philip
Pyarajan, Saiju
Przygodzki, Ronald
Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title_full Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title_fullStr Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title_full_unstemmed Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title_short Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
title_sort pharmacogenetic allele variant frequencies: an analysis of the va’s million veteran program (mvp) as a representation of the diversity in us population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956596/
https://www.ncbi.nlm.nih.gov/pubmed/36827430
http://dx.doi.org/10.1371/journal.pone.0274339
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