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CAPG: comprehensive allopolyploid genotyper
MOTIVATION: Genotyping by sequencing is a powerful tool for investigating genetic variation in plants, but many economically important plants are allopolyploids, where homoeologous similarity obscures the subgenomic origin of reads and confounds allelic and homoeologous SNPs. Recent polyploid genoty...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825759/ https://www.ncbi.nlm.nih.gov/pubmed/36367243 http://dx.doi.org/10.1093/bioinformatics/btac729 |
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author | Kulkarni, Roshan Zhang, Yudi Cannon, Steven B Dorman, Karin S |
author_facet | Kulkarni, Roshan Zhang, Yudi Cannon, Steven B Dorman, Karin S |
author_sort | Kulkarni, Roshan |
collection | PubMed |
description | MOTIVATION: Genotyping by sequencing is a powerful tool for investigating genetic variation in plants, but many economically important plants are allopolyploids, where homoeologous similarity obscures the subgenomic origin of reads and confounds allelic and homoeologous SNPs. Recent polyploid genotyping methods use allelic frequencies, rate of heterozygosity, parental cross or other information to resolve read assignment, but good subgenomic references offer the most direct information. The typical strategy aligns reads to the joint reference, performs diploid genotyping within each subgenome, and filters the results, but persistent read misassignment results in an excess of false heterozygous calls. RESULTS: We introduce the Comprehensive Allopolyploid Genotyper (CAPG), which formulates an explicit likelihood to weight read alignments against both subgenomic references and genotype individual allopolyploids from whole-genome resequencing data. We demonstrate CAPG in allotetraploids, where it performs better than Genome Analysis Toolkit’s HaplotypeCaller applied to reads aligned to the combined subgenomic references. AVAILABILITY AND IMPLEMENTATION: Code and tutorials are available at https://github.com/Kkulkarni1/CAPG.git. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-9825759 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-98257592023-01-10 CAPG: comprehensive allopolyploid genotyper Kulkarni, Roshan Zhang, Yudi Cannon, Steven B Dorman, Karin S Bioinformatics Original Paper MOTIVATION: Genotyping by sequencing is a powerful tool for investigating genetic variation in plants, but many economically important plants are allopolyploids, where homoeologous similarity obscures the subgenomic origin of reads and confounds allelic and homoeologous SNPs. Recent polyploid genotyping methods use allelic frequencies, rate of heterozygosity, parental cross or other information to resolve read assignment, but good subgenomic references offer the most direct information. The typical strategy aligns reads to the joint reference, performs diploid genotyping within each subgenome, and filters the results, but persistent read misassignment results in an excess of false heterozygous calls. RESULTS: We introduce the Comprehensive Allopolyploid Genotyper (CAPG), which formulates an explicit likelihood to weight read alignments against both subgenomic references and genotype individual allopolyploids from whole-genome resequencing data. We demonstrate CAPG in allotetraploids, where it performs better than Genome Analysis Toolkit’s HaplotypeCaller applied to reads aligned to the combined subgenomic references. AVAILABILITY AND IMPLEMENTATION: Code and tutorials are available at https://github.com/Kkulkarni1/CAPG.git. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2022-11-11 /pmc/articles/PMC9825759/ /pubmed/36367243 http://dx.doi.org/10.1093/bioinformatics/btac729 Text en © The Author(s) 2022. Published by Oxford University Press. 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 | Original Paper Kulkarni, Roshan Zhang, Yudi Cannon, Steven B Dorman, Karin S CAPG: comprehensive allopolyploid genotyper |
title | CAPG: comprehensive allopolyploid genotyper |
title_full | CAPG: comprehensive allopolyploid genotyper |
title_fullStr | CAPG: comprehensive allopolyploid genotyper |
title_full_unstemmed | CAPG: comprehensive allopolyploid genotyper |
title_short | CAPG: comprehensive allopolyploid genotyper |
title_sort | capg: comprehensive allopolyploid genotyper |
topic | Original Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825759/ https://www.ncbi.nlm.nih.gov/pubmed/36367243 http://dx.doi.org/10.1093/bioinformatics/btac729 |
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