Software for Quantifying and Simulating Microsatellite Genotyping Error

Microsatellite genetic marker data are exploited in a variety of fields, including forensics, gene mapping, kinship inference and population genetics. In all of these fields, inference can be thwarted by failure to quantify and account for data errors, and kinship inference in particular can benefit...

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Main Authors: Paul C.D. Johnson, Daniel T. Haydon
Format: Article
Language:English
Published: SAGE Publishing 2007-01-01
Series:Bioinformatics and Biology Insights
Subjects:
Online Access:http://la-press.com/article.php?article_id=432
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author Paul C.D. Johnson
Daniel T. Haydon
author_facet Paul C.D. Johnson
Daniel T. Haydon
author_sort Paul C.D. Johnson
collection DOAJ
description Microsatellite genetic marker data are exploited in a variety of fields, including forensics, gene mapping, kinship inference and population genetics. In all of these fields, inference can be thwarted by failure to quantify and account for data errors, and kinship inference in particular can benefit from separating errors into two distinct classes: allelic dropout and false alleles. Pedant is MS Windows software for estimating locus-specific maximum likelihood rates of these two classes of error. Estimation is based on comparison of duplicate error-prone genotypes: neither reference genotypes nor pedigree data are required. Other functions include: plotting of error rate estimates and confidence intervals; simulations for performing power analysis and for testing the robustness of error rate estimates to violation of the underlying assumptions; and estimation of expected heterozygosity, which is a required input. The program, documentation and source code are available from http://www.stats.gla.ac.uk/~paulj/pedant.html.
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spelling doaj.art-35cc5f2b0a434b3fb885b0c14710b0d72022-12-21T22:45:16ZengSAGE PublishingBioinformatics and Biology Insights1177-93222007-01-0117175Software for Quantifying and Simulating Microsatellite Genotyping ErrorPaul C.D. JohnsonDaniel T. HaydonMicrosatellite genetic marker data are exploited in a variety of fields, including forensics, gene mapping, kinship inference and population genetics. In all of these fields, inference can be thwarted by failure to quantify and account for data errors, and kinship inference in particular can benefit from separating errors into two distinct classes: allelic dropout and false alleles. Pedant is MS Windows software for estimating locus-specific maximum likelihood rates of these two classes of error. Estimation is based on comparison of duplicate error-prone genotypes: neither reference genotypes nor pedigree data are required. Other functions include: plotting of error rate estimates and confidence intervals; simulations for performing power analysis and for testing the robustness of error rate estimates to violation of the underlying assumptions; and estimation of expected heterozygosity, which is a required input. The program, documentation and source code are available from http://www.stats.gla.ac.uk/~paulj/pedant.html.http://la-press.com/article.php?article_id=432microsatellitesgenotyping errorallelic dropoutfalse allelesmaximum likelihoodsoftware
spellingShingle Paul C.D. Johnson
Daniel T. Haydon
Software for Quantifying and Simulating Microsatellite Genotyping Error
Bioinformatics and Biology Insights
microsatellites
genotyping error
allelic dropout
false alleles
maximum likelihood
software
title Software for Quantifying and Simulating Microsatellite Genotyping Error
title_full Software for Quantifying and Simulating Microsatellite Genotyping Error
title_fullStr Software for Quantifying and Simulating Microsatellite Genotyping Error
title_full_unstemmed Software for Quantifying and Simulating Microsatellite Genotyping Error
title_short Software for Quantifying and Simulating Microsatellite Genotyping Error
title_sort software for quantifying and simulating microsatellite genotyping error
topic microsatellites
genotyping error
allelic dropout
false alleles
maximum likelihood
software
url http://la-press.com/article.php?article_id=432
work_keys_str_mv AT paulcdjohnson softwareforquantifyingandsimulatingmicrosatellitegenotypingerror
AT danielthaydon softwareforquantifyingandsimulatingmicrosatellitegenotypingerror