ClinVar database of global familial hypercholesterolemia-associated DNA variants.

ABSTRACT: Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource

SUBMITTER: Iacocca MA 

PROVIDER: S-EPMC6206854 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature