Pisces: an accurate and versatile variant caller for somatic and germline next-generation sequencing data

Motivation Next-generation sequencing technology is transitioning quickly from research labs to clinical settings. The diagnosis and treatment selection for many acquired and autosomal conditions necessitate a method for accurately detecting somatic and germline variants. Results We have developed Pisces, a rapid, versatile and accurate small-variant calling suite designed for somatic and germline amplicon sequencing applications. Accuracy is achieved by four distinct modules, each incorporating a number of novel algorithmic strategies. Availability and implementation Pisces is distributed under an open source license and can be downloaded from https://github.com/Illumina/Pisces. Pisces is available on the BaseSpace SequenceHub. It is distributed on Illumina sequencing platforms such as the MiSeq and is included in the Praxis Extended RAS Panel test which was recently approved by the FDA. Supplementary information Supplementary data are available at Bioinformatics online.

Jaar van publicatie:2019

Trefwoorden:A1 Journal article

BOF-keylabel:ja

BOF-publication weight:10

CSS-citation score:2

Auteurs:International

Authors from:Higher Education

Toegankelijkheid:Open