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

被引:7
作者
Hunt, Martin [1 ,2 ]
Letcher, Brice [1 ]
Malone, Kerri M. [1 ]
Nguyen, Giang [1 ]
Hall, Michael B. [1 ]
Colquhoun, Rachel M. [3 ]
Lima, Leandro [1 ]
Schatz, Michael C. [4 ]
Ramakrishnan, Srividya [4 ]
Iqbal, Zamin [1 ]
机构
[1] EMBL EBI, Cambridge, England
[2] Univ Oxford, Nuffield Dept Med, Oxford, England
[3] Univ Edinburgh, Inst Evolutionary Biol, Ashworth Labs, Edinburgh, Midlothian, Scotland
[4] Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA
基金
比尔及梅琳达.盖茨基金会; 英国惠康基金;
关键词
MYCOBACTERIUM-TUBERCULOSIS; RPOB MUTATIONS; SEQUENCE; RESISTANCE; DIVERSITY; FORMAT;
D O I
10.1186/s13059-022-02714-x
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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).
引用
收藏
页数:23
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共 62 条
  • [1] Trimmomatic: a flexible trimmer for Illumina sequence data
    Bolger, Anthony M.
    Lohse, Marc
    Usadel, Bjoern
    [J]. BIOINFORMATICS, 2014, 30 (15) : 2114 - 2120
  • [2] Brankin A, 2021, BIORXIV
  • [3] Genomic diversity affects the accuracy of bacterial single-nucleotide polymorphism-calling pipelines
    Bush, Stephen J.
    Foster, Dona
    Eyre, David W.
    Clark, Emily L.
    De Maio, Nicola
    Shaw, Liam P.
    Stoesser, Nicole
    Peto, Tim E. A.
    Crook, Derrick W.
    Walker, A. Sarah
    [J]. GIGASCIENCE, 2020, 9 (02):
  • [4] Carter J. J., PREPRINT, DOI [10.1101/2021.09.14.460353(2021, DOI 10.1101/2021.09.14.460353(2021]
  • [5] Paragraph: a graph-based structural variant genotyper for short-read sequence data
    Chen, Sai
    Krusche, Peter
    Dolzhenko, Egor
    Sherman, Rachel M.
    Petrovski, Roman
    Schlesinger, Felix
    Kirsche, Melanie
    Bentley, David R.
    Schatz, Michael C.
    Sedlazeck, Fritz J.
    Eberle, Michael A.
    [J]. GENOME BIOLOGY, 2019, 20 (01)
  • [6] 2015, bioRxiv, DOI [10.1101/023754, 10.1101/023754, DOI 10.1101/023754]
  • [7] Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence
    Cole, ST
    Brosch, R
    Parkhill, J
    Garnier, T
    Churcher, C
    Harris, D
    Gordon, SV
    Eiglmeier, K
    Gas, S
    Barry, CE
    Tekaia, F
    Badcock, K
    Basham, D
    Brown, D
    Chillingworth, T
    Connor, R
    Davies, R
    Devlin, K
    Feltwell, T
    Gentles, S
    Hamlin, N
    Holroyd, S
    Hornby, T
    Jagels, K
    Krogh, A
    McLean, J
    Moule, S
    Murphy, L
    Oliver, K
    Osborne, J
    Quail, MA
    Rajandream, MA
    Rogers, J
    Rutter, S
    Seeger, K
    Skelton, J
    Squares, R
    Squares, S
    Sulston, JE
    Taylor, K
    Whitehead, S
    Barrell, BG
    [J]. NATURE, 1998, 393 (6685) : 537 - +
  • [8] Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae
    Conlan, Sean
    Thomas, Pamela J.
    Deming, Clayton
    Park, Morgan
    Lau, Anna F.
    Dekker, John P.
    Snitkin, Evan S.
    Clark, Tyson A.
    Khai Luong
    Song, Yi
    Tsai, Yu-Chih
    Boitano, Matthew
    Dayal, Jyoti
    Brooks, Shelise Y.
    Schmidt, Brian
    Young, Alice C.
    Thomas, James W.
    Bouffard, Gerard G.
    Blakesley, Robert W.
    Mullikin, James C.
    Korlach, Jonas
    Henderson, David K.
    Frank, Karen M.
    Palmore, Tara N.
    Segre, Julia A.
    [J]. SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (254)
  • [9] A unified haplotype-based method for accurate and comprehensive variant calling
    Cooke, Daniel P.
    Wedge, David C.
    Lunter, Gerton
    [J]. NATURE BIOTECHNOLOGY, 2021, 39 (07) : 885 - 892
  • [10] The variant call format and VCFtools
    Danecek, Petr
    Auton, Adam
    Abecasis, Goncalo
    Albers, Cornelis A.
    Banks, Eric
    DePristo, Mark A.
    Handsaker, Robert E.
    Lunter, Gerton
    Marth, Gabor T.
    Sherry, Stephen T.
    McVean, Gilean
    Durbin, Richard
    [J]. BIOINFORMATICS, 2011, 27 (15) : 2156 - 2158