software . 2018

S22S: Accurate Reference-Free Somatic Variant-Calling by Integrating Genomic, Sequencing and Population Data

Sun, Ren X; Lalansingh, Christopher M.; Shadrielle Melijah G. Espiritu; Yao, Cindy Q.; Yamaguchi, Takafumi N.; Stephenie D. Prokopec; Szyca, Lesia; Houlahan, Kathleen E.; Heisler, Lawrence E.; Black, Morgan; ...
English
  • Published: 01 Jan 2018
  • Publisher: Code Ocean
Abstract
S22S is a single-sample somatic SNV selector that employs a random forest model to predict whether a variant called without a matched normal sample is likely to be somatic or not. It integrates features from the VCF file, BAM file and population frequencies from publicly-available sources to make predictions.
Subjects
free text keywords: Capsule, Bioinformatics, FOS: Computer and information sciences, snv, single-nucleotide-variants, reference-free, variant-caller, random-forest
Funded by
NSERC
Project
  • Funder: Natural Sciences and Engineering Research Council of Canada (NSERC)
,
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
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Code Ocean
Software . 2018
Provider: Datacite
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