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Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes

There are many short-read variant-calling tools, with different strengths and weaknesses. We present a tool, Minos, which combines outputs from arbitrary variant callers, increasing recall without loss of precision. We benchmark on 62 samples from three bacterial species and an outbreak of 385 Mycob...

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Autores principales: Hunt, Martin, Letcher, Brice, Malone, Kerri M., Nguyen, Giang, Hall, Michael B., Colquhoun, Rachel M., Lima, Leandro, Schatz, Michael C., Ramakrishnan, Srividya, Iqbal, Zamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254434/
https://www.ncbi.nlm.nih.gov/pubmed/35791022
http://dx.doi.org/10.1186/s13059-022-02714-x
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author Hunt, Martin
Letcher, Brice
Malone, Kerri M.
Nguyen, Giang
Hall, Michael B.
Colquhoun, Rachel M.
Lima, Leandro
Schatz, Michael C.
Ramakrishnan, Srividya
Iqbal, Zamin
author_facet Hunt, Martin
Letcher, Brice
Malone, Kerri M.
Nguyen, Giang
Hall, Michael B.
Colquhoun, Rachel M.
Lima, Leandro
Schatz, Michael C.
Ramakrishnan, Srividya
Iqbal, Zamin
author_sort Hunt, Martin
collection PubMed
description There are many short-read variant-calling tools, with different strengths and weaknesses. We present a tool, Minos, which combines outputs from arbitrary variant callers, increasing recall without loss of precision. We benchmark on 62 samples from three bacterial species and an outbreak of 385 Mycobacterium tuberculosis samples. Minos also enables joint genotyping; we demonstrate on a large (N=13k) M. tuberculosis cohort, building a map of non-synonymous SNPs and indels in a region where all such variants are assumed to cause rifampicin resistance. We quantify the correlation with phenotypic resistance and then replicate in a second cohort (N=10k). SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at (10.1186/s13059-022-02714-x).
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spelling pubmed-92544342022-07-06 Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes Hunt, Martin Letcher, Brice Malone, Kerri M. Nguyen, Giang Hall, Michael B. Colquhoun, Rachel M. Lima, Leandro Schatz, Michael C. Ramakrishnan, Srividya Iqbal, Zamin Genome Biol Software There are many short-read variant-calling tools, with different strengths and weaknesses. We present a tool, Minos, which combines outputs from arbitrary variant callers, increasing recall without loss of precision. We benchmark on 62 samples from three bacterial species and an outbreak of 385 Mycobacterium tuberculosis samples. Minos also enables joint genotyping; we demonstrate on a large (N=13k) M. tuberculosis cohort, building a map of non-synonymous SNPs and indels in a region where all such variants are assumed to cause rifampicin resistance. We quantify the correlation with phenotypic resistance and then replicate in a second cohort (N=10k). SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at (10.1186/s13059-022-02714-x). BioMed Central 2022-07-05 /pmc/articles/PMC9254434/ /pubmed/35791022 http://dx.doi.org/10.1186/s13059-022-02714-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Hunt, Martin
Letcher, Brice
Malone, Kerri M.
Nguyen, Giang
Hall, Michael B.
Colquhoun, Rachel M.
Lima, Leandro
Schatz, Michael C.
Ramakrishnan, Srividya
Iqbal, Zamin
Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title_full Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title_fullStr Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title_full_unstemmed Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title_short Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
title_sort minos: variant adjudication and joint genotyping of cohorts of bacterial genomes
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254434/
https://www.ncbi.nlm.nih.gov/pubmed/35791022
http://dx.doi.org/10.1186/s13059-022-02714-x
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