BCFtools/csq

[PMID:28205675] [Bioinformatics]

BCFtools/csq: Haplotype-aware variant consequences

“current predictors analyze variants as isolated events, which can lead to incorrect predictions when adjacent variants alter the same codon, or when a frame-shifting indel is followed by a frame-restoring indel. Exploiting known haplotype information when making consequence predictions can resolve these issues.” “BCFtools/csq is a fast program for haplotype-aware consequence calling which can take into account known phase.”

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