EMBL-EBI, Cambridge, UK.
Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Genome Biol. 2022 Jul 5;23(1):147. doi: 10.1186/s13059-022-02714-x.
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).
有许多短读变异调用工具,各有优缺点。我们介绍了一种名为 Minos 的工具,它可以组合任意变异调用工具的输出,在不损失精度的情况下提高召回率。我们在三个细菌物种的 62 个样本和 385 个结核分枝杆菌样本的爆发中进行了基准测试。Minos 还支持联合基因分型;我们在一个大型结核分枝杆菌队列(N=13k)上进行了演示,构建了一个假定所有此类变异都导致利福平耐药的非同义 SNPs 和插入缺失的图谱。我们量化了与表型耐药的相关性,然后在第二个队列(N=10k)中进行了复制。