Article
RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data.
Bioinformatics (Oxford, England) - 1 Sept 2015
He Yuting, Zhang Fan, Flaherty Patrick
Abstract excerpt
MOTIVATION: Next-generation sequencing technology is increasingly being used for clinical diagnostic tests. Clinical samples are often genomically heterogeneous due to low sample purity or the presence of genetic subpopulations. Therefore, a variant calling algorithm for calling low-frequency polymorphisms in heterogeneous samples is needed. RESULTS: We present a novel variant calling algorithm that uses a...
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