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Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel

We calculated the linkage disequilibrium between all pairs of variants in the Drosophila Genome Reference Panel with minor allele count ≥5. We used r(2) ≥ 0.5 as the cutoff for a highly correlated SNP. We make available the list of all highly correlated SNPs for use in association studies. Seventy-s...

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Autores principales: Houle, David, Márquez, Eladio J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528326/
https://www.ncbi.nlm.nih.gov/pubmed/26068573
http://dx.doi.org/10.1534/g3.115.019554
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author Houle, David
Márquez, Eladio J.
author_facet Houle, David
Márquez, Eladio J.
author_sort Houle, David
collection PubMed
description We calculated the linkage disequilibrium between all pairs of variants in the Drosophila Genome Reference Panel with minor allele count ≥5. We used r(2) ≥ 0.5 as the cutoff for a highly correlated SNP. We make available the list of all highly correlated SNPs for use in association studies. Seventy-six percent of variant SNPs are highly correlated with at least one other SNP, and the mean number of highly correlated SNPs per variant over the whole genome is 83.9. Disequilibrium between distant SNPs is also common when minor allele frequency (MAF) is low: 37% of SNPs with MAF < 0.1 are highly correlated with SNPs more than 100 kb distant. Although SNPs within regions with polymorphic inversions are highly correlated with somewhat larger numbers of SNPs, and these correlated SNPs are on average farther away, the probability that a SNP in such regions is highly correlated with at least one other SNP is very similar to SNPs outside inversions. Previous karyotyping of the DGRP lines has been inconsistent, and we used LD and genotype to investigate these discrepancies. When previous studies agreed on inversion karyotype, our analysis was almost perfectly concordant with those assignments. In discordant cases, and for inversion heterozygotes, our results suggest errors in two previous analyses or discordance between genotype and karyotype. Heterozygosities of chromosome arms are, in many cases, surprisingly highly correlated, suggesting strong epsistatic selection during the inbreeding and maintenance of the DGRP lines.
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spelling pubmed-45283262015-08-10 Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel Houle, David Márquez, Eladio J. G3 (Bethesda) Investigations We calculated the linkage disequilibrium between all pairs of variants in the Drosophila Genome Reference Panel with minor allele count ≥5. We used r(2) ≥ 0.5 as the cutoff for a highly correlated SNP. We make available the list of all highly correlated SNPs for use in association studies. Seventy-six percent of variant SNPs are highly correlated with at least one other SNP, and the mean number of highly correlated SNPs per variant over the whole genome is 83.9. Disequilibrium between distant SNPs is also common when minor allele frequency (MAF) is low: 37% of SNPs with MAF < 0.1 are highly correlated with SNPs more than 100 kb distant. Although SNPs within regions with polymorphic inversions are highly correlated with somewhat larger numbers of SNPs, and these correlated SNPs are on average farther away, the probability that a SNP in such regions is highly correlated with at least one other SNP is very similar to SNPs outside inversions. Previous karyotyping of the DGRP lines has been inconsistent, and we used LD and genotype to investigate these discrepancies. When previous studies agreed on inversion karyotype, our analysis was almost perfectly concordant with those assignments. In discordant cases, and for inversion heterozygotes, our results suggest errors in two previous analyses or discordance between genotype and karyotype. Heterozygosities of chromosome arms are, in many cases, surprisingly highly correlated, suggesting strong epsistatic selection during the inbreeding and maintenance of the DGRP lines. Genetics Society of America 2015-06-10 /pmc/articles/PMC4528326/ /pubmed/26068573 http://dx.doi.org/10.1534/g3.115.019554 Text en Copyright © 2015 Houle and Márquez http://creativecommons.org/licenses/by/4.0/ This is an open-access article 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 the original work is properly cited.
spellingShingle Investigations
Houle, David
Márquez, Eladio J.
Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title_full Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title_fullStr Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title_full_unstemmed Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title_short Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel
title_sort linkage disequilibrium and inversion-typing of the drosophila melanogaster genome reference panel
topic Investigations
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528326/
https://www.ncbi.nlm.nih.gov/pubmed/26068573
http://dx.doi.org/10.1534/g3.115.019554
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