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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.
Affiliation
  • Hunt M; EMBL-EBI, Cambridge, UK.
  • Letcher B; Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Malone KM; EMBL-EBI, Cambridge, UK.
  • Nguyen G; EMBL-EBI, Cambridge, UK.
  • Hall MB; EMBL-EBI, Cambridge, UK.
  • Colquhoun RM; EMBL-EBI, Cambridge, UK.
  • Lima L; Institute of Evolutionary Biology, Ashworth Laboratories, University of Edinburgh, Edinburgh, UK.
  • Schatz MC; EMBL-EBI, Cambridge, UK.
  • Ramakrishnan S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Genome Biol ; 23(1): 147, 2022 07 05.
Article in En | MEDLINE | ID: mdl-35791022
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).
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Mycobacterium tuberculosis Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2022 Type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Mycobacterium tuberculosis Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2022 Type: Article