生殖系
体细胞
生物
计算生物学
种系突变
开源
计算机科学
单倍型
遗传学
样品(材料)
突变
基因
基因型
软件
色谱法
化学
程序设计语言
作者
Sangtae Kim,Konrad Scheffler,Aaron L. Halpern,Mitchell A. Bekritsky,Eunho Noh,Morten Källberg,Xiaoyu Chen,Yeonbin Kim,Doruk Beyter,Peter Krusche,Christopher T. Saunders
出处
期刊:Nature Methods
[Springer Nature]
日期:2018-07-16
卷期号:15 (8): 591-594
被引量:896
标识
DOI:10.1038/s41592-018-0051-x
摘要
We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/deletion error parameters from each sample, an efficient tiered haplotype-modeling strategy, and a normal sample contamination model to improve liquid tumor analysis. For both germline and somatic calling, Strelka2 substantially outperformed the current leading tools in terms of both variant-calling accuracy and computing cost.
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