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Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples

Archeogenetics has been revolutionary, revealing insights into demographic history and recent positive selection. However, most studies to date have ignored the nonrandom association of genetic variants at different loci (i.e. linkage disequilibrium). This may be in part because basic properties of...

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Autores principales: Biddanda, Arjun, Steinrücken, Matthias, Novembre, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245597/
https://www.ncbi.nlm.nih.gov/pubmed/35294015
http://dx.doi.org/10.1093/genetics/iyac038
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author Biddanda, Arjun
Steinrücken, Matthias
Novembre, John
author_facet Biddanda, Arjun
Steinrücken, Matthias
Novembre, John
author_sort Biddanda, Arjun
collection PubMed
description Archeogenetics has been revolutionary, revealing insights into demographic history and recent positive selection. However, most studies to date have ignored the nonrandom association of genetic variants at different loci (i.e. linkage disequilibrium). This may be in part because basic properties of linkage disequilibrium in samples from different times are still not well understood. Here, we derive several results for summary statistics of haplotypic variation under a model with time-stratified sampling: (1) The correlation between the number of pairwise differences observed between time-staggered samples ([Formula: see text]) in models with and without strict population continuity; (2) The product of the linkage disequilibrium coefficient, D, between ancient and modern samples, which is a measure of haplotypic similarity between modern and ancient samples; and (3) The expected switch rate in the Li and Stephens haplotype copying model. The latter has implications for genotype imputation and phasing in ancient samples with modern reference panels. Overall, these results provide a characterization of how haplotype patterns are affected by sample age, recombination rates, and population sizes. We expect these results will help guide the interpretation and analysis of haplotype data from ancient and modern samples.
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spelling pubmed-92455972022-07-01 Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples Biddanda, Arjun Steinrücken, Matthias Novembre, John Genetics Investigation Archeogenetics has been revolutionary, revealing insights into demographic history and recent positive selection. However, most studies to date have ignored the nonrandom association of genetic variants at different loci (i.e. linkage disequilibrium). This may be in part because basic properties of linkage disequilibrium in samples from different times are still not well understood. Here, we derive several results for summary statistics of haplotypic variation under a model with time-stratified sampling: (1) The correlation between the number of pairwise differences observed between time-staggered samples ([Formula: see text]) in models with and without strict population continuity; (2) The product of the linkage disequilibrium coefficient, D, between ancient and modern samples, which is a measure of haplotypic similarity between modern and ancient samples; and (3) The expected switch rate in the Li and Stephens haplotype copying model. The latter has implications for genotype imputation and phasing in ancient samples with modern reference panels. Overall, these results provide a characterization of how haplotype patterns are affected by sample age, recombination rates, and population sizes. We expect these results will help guide the interpretation and analysis of haplotype data from ancient and modern samples. Oxford University Press 2022-03-16 /pmc/articles/PMC9245597/ /pubmed/35294015 http://dx.doi.org/10.1093/genetics/iyac038 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of Genetics Society of America. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Investigation
Biddanda, Arjun
Steinrücken, Matthias
Novembre, John
Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title_full Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title_fullStr Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title_full_unstemmed Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title_short Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
title_sort properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples
topic Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245597/
https://www.ncbi.nlm.nih.gov/pubmed/35294015
http://dx.doi.org/10.1093/genetics/iyac038
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