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
发表日期
2018/8
期刊
Nature methods
卷号
15
期号
8
页码范围
591-594
出版商
Nature Publishing Group US
简介
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.
引用总数
2018201920202021202220232024774152205226261114
学术搜索中的文章
S Kim, K Scheffler, AL Halpern, MA Bekritsky, E Noh… - Nature methods, 2018