Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

ABSTRACT: Genetic variation in populations of Middle Eastern origin remains highly underrepresented in most comprehensive genomic databases. This underrepresentation hampers the functional annotation of the human genome and challenges accurate clinical variant interpretation. To highlight the importance of capturing genetic variation in the Middle East, we aggregated whole exome and genome sequencing data from 2116 individuals in the Middle East and established the Middle East Variation (MEV) database. Of the high-impact coding (missense and loss of function) variants in this database, 53% were absent from the most comprehensive Genome Aggregation Database (gnomAD), thus representing a unique Middle Eastern variation dataset which might directly impact clinical variant interpretation. We highlight 3

SUBMITTER: Ramaswamy S 

PROVIDER: S-EPMC8956070 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature