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

T Dunn, G Berry, D Emig-Agius, Y Jiang, S Lei… - …, 2019 - academic.oup.com
T Dunn, G Berry, D Emig-Agius, Y Jiang, S Lei, A Iyer, N Udar, HY Chuang, J Hegarty…
Bioinformatics, 2019academic.oup.com
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 …
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.
Oxford University Press