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LDpop: an interactive online tool to calculate and visualize geographic LD patterns

BACKGROUND: Linkage disequilibrium (LD)—the non-random association of alleles at different loci—defines population-specific haplotypes which vary by genomic ancestry. Assessment of allelic frequencies and LD patterns from a variety of ancestral populations enables researchers to better understand po...

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Autores principales: Alexander, T. A., Machiela, M. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954550/
https://www.ncbi.nlm.nih.gov/pubmed/31924160
http://dx.doi.org/10.1186/s12859-020-3340-1
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author Alexander, T. A.
Machiela, M. J.
author_facet Alexander, T. A.
Machiela, M. J.
author_sort Alexander, T. A.
collection PubMed
description BACKGROUND: Linkage disequilibrium (LD)—the non-random association of alleles at different loci—defines population-specific haplotypes which vary by genomic ancestry. Assessment of allelic frequencies and LD patterns from a variety of ancestral populations enables researchers to better understand population histories as well as improve genetic understanding of diseases in which risk varies by ethnicity. RESULTS: We created an interactive web module which allows for quick geographic visualization of linkage disequilibrium (LD) patterns between two user-specified germline variants across geographic populations included in the 1000 Genomes Project. Interactive maps and a downloadable, sortable summary table allow researchers to easily compute and compare allele frequencies and LD statistics of dbSNP catalogued variants. The geographic mapping of each SNP’s allele frequencies by population as well as visualization of LD statistics allows the user to easily trace geographic allelic correlation patterns and examine population-specific differences. CONCLUSIONS: LDpop is a free and publicly available cross-platform web tool which can be accessed online at https://ldlink.nci.nih.gov/?tab=ldpop
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spelling pubmed-69545502020-01-14 LDpop: an interactive online tool to calculate and visualize geographic LD patterns Alexander, T. A. Machiela, M. J. BMC Bioinformatics Software BACKGROUND: Linkage disequilibrium (LD)—the non-random association of alleles at different loci—defines population-specific haplotypes which vary by genomic ancestry. Assessment of allelic frequencies and LD patterns from a variety of ancestral populations enables researchers to better understand population histories as well as improve genetic understanding of diseases in which risk varies by ethnicity. RESULTS: We created an interactive web module which allows for quick geographic visualization of linkage disequilibrium (LD) patterns between two user-specified germline variants across geographic populations included in the 1000 Genomes Project. Interactive maps and a downloadable, sortable summary table allow researchers to easily compute and compare allele frequencies and LD statistics of dbSNP catalogued variants. The geographic mapping of each SNP’s allele frequencies by population as well as visualization of LD statistics allows the user to easily trace geographic allelic correlation patterns and examine population-specific differences. CONCLUSIONS: LDpop is a free and publicly available cross-platform web tool which can be accessed online at https://ldlink.nci.nih.gov/?tab=ldpop BioMed Central 2020-01-10 /pmc/articles/PMC6954550/ /pubmed/31924160 http://dx.doi.org/10.1186/s12859-020-3340-1 Text en © The Author(s). 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Alexander, T. A.
Machiela, M. J.
LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title_full LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title_fullStr LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title_full_unstemmed LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title_short LDpop: an interactive online tool to calculate and visualize geographic LD patterns
title_sort ldpop: an interactive online tool to calculate and visualize geographic ld patterns
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954550/
https://www.ncbi.nlm.nih.gov/pubmed/31924160
http://dx.doi.org/10.1186/s12859-020-3340-1
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