Article
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Human mutation - 1 Jun 2022
Rodrigues Eliete da S, Griffith Sean, Martin Renan, Antonescu Corina, Posey Jennifer E, Coban-Akdemir Zeynep, Jhangiani Shalini N, Doheny Kimberly F, Lupski James R, Valle David, Bamshad Michael J, Hamosh Ada, Sheffer Assaf, Chong Jessica X, Einhorn Yaron, Cupak Miro, Sobreira Nara
Abstract excerpt
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data...
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