Article
BCFtools/csq: haplotype-aware variant consequences.
Bioinformatics (Oxford, England) - 1 Jul 2017
Danecek Petr, McCarthy Shane A
Abstract excerpt
MOTIVATION: Prediction of functional variant consequences is an important part of sequencing pipelines, allowing the categorization and prioritization of genetic variants for follow up analysis. However, 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....
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