Article

Annotation of Human Exome Gene Variants with Consensus Pathogenicity

2020-07-31

Abstract excerpt

Pathogenicity is unknown for the majority of human gene variants. For prioritization of sequenced somatic and germline mutation variants, in silico approaches can be utilized. In this study, 84 million non-synonymous Single Nucleotide Variants (SNVs) in the human coding genome were annotated using consensus Variant Effect Prediction (cVEP) method. An algorithm, implemented as a stacked ensemble of supervised learn...

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Literature Corpus work: 4d5e52c4-c5c0-545a-9c0e-8eb4bfcd4471
DOI: 10.20944/preprints202007.0735.v1

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