Strelka2: fast and accurate calling of germline and somatic variants.
Nat Methods
; 15(8): 591-594, 2018 08.
Article
in En
| MEDLINE
| ID: mdl-30013048
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Software
/
Germ-Line Mutation
Limits:
Humans
Language:
En
Journal:
Nat Methods
Journal subject:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Year:
2018
Type:
Article
Affiliation country:
United States