WGSA

[PMID:26395054] [Journal of Medical Genetics]

WGSA: an annotation pipeline for human genome sequencing studies

“a functional annotation pipeline for human genome sequencing studies, which is runnable out of the box on the Amazon Compute Cloud”. “For gene-model based annotation, WGSA integrates the outputs from three annotation tools (ANNOVAR, SnpEff and VEP) versus two databases (RefSeq and Ensembl), and provides a summary of variant consequences from the six annotation results… For SNV-centric resources, WGSA integrates five functional prediction scores, eight conservation scores, allele frequencies from four large-scale sequencing studies, variants in four disease-related databases, among others… For regulatory region-centric resources, WGSA includes cell type specific transcription factor binding sites, DNAse I hypersensitivity regions and chromosome activity predictions from three epigenomics projects.”

Work from Xiaoming Liu @UTHealth, who developed dbNSFP and dbscSNV.

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