Article
An Individualized Approach for Somatic Variant Discovery.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020
Li Minghao, He Ting, Cao Chen, Long Quan
Abstract excerpt
Somatic variant callers identify mutations found within cancer genome sequencing data through mapping sequencing reads to a universal reference genome and inferring likelihoods from statistical models. False positives, however, are common among various tools as mismatches with the universal reference can also occur due to germline variants. Previous applications of personalized reference construction are not...
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