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Pedigree reconstruction from poor quality genotype data

Marker genotype data could suffer from a high rate of errors such as false alleles and allelic dropouts (null alleles) in situations such as SNPs from low-coverage next-generation sequencing and microsatellites from noninvasive samples. Use of such data without accounting for mistyping properly coul...

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Autor principal: Wang, Jinliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6781133/
https://www.ncbi.nlm.nih.gov/pubmed/30631146
http://dx.doi.org/10.1038/s41437-018-0178-7
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author Wang, Jinliang
author_facet Wang, Jinliang
author_sort Wang, Jinliang
collection PubMed
description Marker genotype data could suffer from a high rate of errors such as false alleles and allelic dropouts (null alleles) in situations such as SNPs from low-coverage next-generation sequencing and microsatellites from noninvasive samples. Use of such data without accounting for mistyping properly could lead to inaccurate or incorrect inferences of family relationships such as parentage and sibship. This study shows that markers with a high error rate are still informative. Simply discarding them could cause a substantial loss of precious information, and is impractical in situations where virtually all markers (e.g. SNPs from low-coverage next-generation sequencing, microsatellites from noninvasive samples) suffer from a similarly high error rate. This study also shows that some previous error models are valid for markers of low error rates, but fail for markers of high error rates. It proposes an improved error model and demonstrates, using simulated and empirical data of a high error rate (say, >0.5), that it leads to more accurate sibship and parentage inferences than previous models. It suggests that, in reality, markers of high error rates should be used rather than discarded in pedigree reconstruction, so long as the error rates can be estimated and used properly in the analyses.
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spelling pubmed-67811332019-10-09 Pedigree reconstruction from poor quality genotype data Wang, Jinliang Heredity (Edinb) Article Marker genotype data could suffer from a high rate of errors such as false alleles and allelic dropouts (null alleles) in situations such as SNPs from low-coverage next-generation sequencing and microsatellites from noninvasive samples. Use of such data without accounting for mistyping properly could lead to inaccurate or incorrect inferences of family relationships such as parentage and sibship. This study shows that markers with a high error rate are still informative. Simply discarding them could cause a substantial loss of precious information, and is impractical in situations where virtually all markers (e.g. SNPs from low-coverage next-generation sequencing, microsatellites from noninvasive samples) suffer from a similarly high error rate. This study also shows that some previous error models are valid for markers of low error rates, but fail for markers of high error rates. It proposes an improved error model and demonstrates, using simulated and empirical data of a high error rate (say, >0.5), that it leads to more accurate sibship and parentage inferences than previous models. It suggests that, in reality, markers of high error rates should be used rather than discarded in pedigree reconstruction, so long as the error rates can be estimated and used properly in the analyses. Springer International Publishing 2019-01-10 2019-06 /pmc/articles/PMC6781133/ /pubmed/30631146 http://dx.doi.org/10.1038/s41437-018-0178-7 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Wang, Jinliang
Pedigree reconstruction from poor quality genotype data
title Pedigree reconstruction from poor quality genotype data
title_full Pedigree reconstruction from poor quality genotype data
title_fullStr Pedigree reconstruction from poor quality genotype data
title_full_unstemmed Pedigree reconstruction from poor quality genotype data
title_short Pedigree reconstruction from poor quality genotype data
title_sort pedigree reconstruction from poor quality genotype data
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6781133/
https://www.ncbi.nlm.nih.gov/pubmed/30631146
http://dx.doi.org/10.1038/s41437-018-0178-7
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