Pisces: An Accurate and Versatile Variant Caller for Somatic and Germline Next-Generation Sequencing Data

Dunn, T.; Berry, G.; Emig-Agius, D.; Jiang, Y.; Lei, S.; Iyer, A.; Udar, N.; Chuang, H.-Y.; Hegarty, J.; Dickover, M.; Klotzle, B.; Robbins, J.; Bibikova, M.; Peeters, M.; Stromberg, M.

doi:10.1101/291641

bioRxiv · 10.1101/291641

Pisces: An Accurate and Versatile Variant Caller for Somatic and Germline Next-Generation Sequencing Data

Dunn, T.·Berry, G.·Emig-Agius, D.·Jiang, Y.·Lei, S.·Iyer, A.·Udar, N.·Chuang, H.-Y.·Hegarty, J.·Dickover, M.·Klotzle, B.·Robbins, J.·Bibikova, M.·Peeters, M.·Stromberg, M.

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Abstract

MotivationNext-Generation Sequencing (NGS) 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, suitable for the clinic.\n\nResultsWe have developed Pisces, a rapid, versatile and accurate small variant calling suite designed for somatic and germline amplicon sequencing applications. Pisces accuracy is achieved by four distinct modules, the Pisces Read Stitcher, Pisces Variant Caller, the Pisces Variant Quality Recalibrator, and the Pisces Variant Phaser. Each module incorporates a number of novel algorithmic strategies aimed at reducing noise or increasing the likelihood of detecting a true variant.\n\nAvailabilityPisces is distributed under an open source license and can be downloaded from https://github.com/Illumina/Pisces. Pisces is available on the BaseSpace SequenceHub as part of the TruSeq Amplicon workflow and the Illumina Ampliseq Workflow. Pisces 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 for the detection of multiple RAS gene mutations.\n\nContactpisces@illumina.com\n\nSupplementary informationSupplementary data are available online.

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Dunn, T., Berry, G., Emig-Agius, D., Jiang, Y., Lei, S., Iyer, A., Udar, N., Chuang, H.-Y., Hegarty, J., Dickover, M., Klotzle, B., Robbins, J., Bibikova, M., Peeters, M., Stromberg, M.. 2018-03-29. Pisces: An Accurate and Versatile Variant Caller for Somatic and Germline Next-Generation Sequencing Data. https://doi.org/10.1101/291641

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