Article
VariFAST: a variant filter by automated scoring based on tagged-signatures.
BMC bioinformatics - 30 Dec 2019
Zhang Hang, Wang Ke, Zhou Juan, Chen Jianhua, Xu Yizhou, Wang Dong, Li Xiaoqi, Sun Renliang, Zhang Mancang, Wang Zhuo, Shi Yongyong
Abstract excerpt
BACKGROUND: Variant calling and refinement from whole genome/exome sequencing data is a fundamental task for genomics studies. Due to the limited accuracy of NGS sequencing and variant callers, IGV-based manual review is required for further false positive variant filtering, which costs massive labor and time, and results in high inter- and intra-lab variability. RESULTS: To overcome the limitation of manual...
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