The LOVD3 platform: efficient genome-wide sharing of genetic variants.

ABSTRACT: Gene variant databases are the backbone of DNA-based diagnostics. These databases, also called Locus-Specific DataBases (LSDBs), store information on variants in the human genome and the observed phenotypic consequences. The largest collection of public databases uses the free, open-source LOVD software platform. To cope with the current demand for online databases, we have entirely redesigned the LOVD software. LOVD3 is genome-centered and can be used to store summary variant data, as well as full case-level data with information on individuals, phenotypes, screenings, and variants. While built on a standard core, the software is highly flexible and allows personalization to cope with the largely different demands of gene/disease database curators. LOVD3 follows current standards and incl

SUBMITTER: Fokkema IFAC 

PROVIDER: S-EPMC8632977 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature