Article

FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome

2022-08-29

Abstract excerpt

<h4>ABSTRACT</h4> Large-scale whole genome sequencing (WGS) studies and biobanks are rapidly generating a multitude of coding and non-coding variants. They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role in WGS analysis, result interpretation, and prioritization of disease- or trait-associated causal variants. Existing fun...

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Literature Corpus work: 504e4b47-6b81-5b95-9f06-8fe748e5f060
DOI: 10.1101/2022.08.28.505582

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