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


ABSTRACT: 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.

SUBMITTER: Dunn T 

PROVIDER: S-EPMC6499249 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Dunn Tamsen T   Berry Gwenn G   Emig-Agius Dorothea D   Jiang Yu Y   Lei Serena S   Iyer Anita A   Udar Nitin N   Chuang Han-Yu HY   Hegarty Jeff J   Dickover Michael M   Klotzle Brandy B   Robbins Justin J   Bibikova Marina M   Peeters Marc M   Strömberg Michael M  

Bioinformatics (Oxford, England) 20190501 9


<h4>Motivation</h4>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.<h4>Results</h4>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, eac  ...[more]

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