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Article

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

European journal of human genetics : EJHG - 1 Dec 2021

Fokkema Ivo F A C, Kroon Mark, López Hernández Julia A, Asscheman Daan, Lugtenburg Ivar, Hoogenboom Jerry, den Dunnen Johan T

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34521998
DOI: 10.1038/s41431-021-00959-x
PMCID: PMC8632977

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