Article
SNooPer: a machine learning-based method for somatic variant identification from low-pass next-generation sequencing.
BMC genomics - 14 Nov 2016
Spinella Jean-François, Mehanna Pamela, Vidal Ramon, Saillour Virginie, Cassart Pauline, Richer Chantal, Ouimet Manon, Healy Jasmine, Sinnett Daniel
Abstract excerpt
BACKGROUND: Next-generation sequencing (NGS) allows unbiased, in-depth interrogation of cancer genomes. Many somatic variant callers have been developed yet accurate ascertainment of somatic variants remains a considerable challenge as evidenced by the varying mutation call rates and low concordance among callers. Statistical model-based algorithms that are currently available perform well under ideal scenarios,...
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