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

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 soft...

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Detalles Bibliográficos
Autores principales: Fokkema, Ivo F.A.C., Kroon, Mark, López Hernández, Julia A., Asscheman, Daan, Lugtenburg, Ivar, Hoogenboom, Jerry, den Dunnen, Johan T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632977/
https://www.ncbi.nlm.nih.gov/pubmed/34521998
http://dx.doi.org/10.1038/s41431-021-00959-x

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