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Published on: June 23, 2012
Pisces: an accurate and versatile variant caller for somatic and germline next-generation sequencing data
Tamsen Dunn1, Gwenn Berry1, Dorothea Emig-Agius1
1Departments of Bioinformatics and Clinical Genomics, Illumina Inc., San Diego, CA, USA.
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.
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