| Literature DB >> 30013048 |
Sangtae Kim1, Konrad Scheffler1, Aaron L Halpern1, Mitchell A Bekritsky2, Eunho Noh1, Morten Källberg2,3, Xiaoyu Chen1, Yeonbin Kim1, Doruk Beyter4,5, Peter Krusche2, Christopher T Saunders6.
Abstract
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.Entities:
Mesh:
Year: 2018 PMID: 30013048 DOI: 10.1038/s41592-018-0051-x
Source DB: PubMed Journal: Nat Methods ISSN: 1548-7091 Impact factor: 28.547