UniProt genomic mapping for deciphering functional effects of missense variants.

ABSTRACT: Understanding the association of genetic variation with its functional consequences in proteins is essential for the interpretation of genomic data and identifying causal variants in diseases. Integration of protein function knowledge with genome annotation can assist in rapidly comprehending genetic variation within complex biological processes. Here, we describe mapping UniProtKB human sequences and positional annotations, such as active sites, binding sites, and variants to the human genome (GRCh38) and the release of a public genome track hub for genome browsers. To demonstrate the power of combining protein annotations with genome annotations for functional interpretation of variants, we present specific biological examples in disease-related genes and proteins. Computational comparis

SUBMITTER: McGarvey PB 

PROVIDER: S-EPMC6563471 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature