Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S. Rodrigues(Johns Hopkins University), Sean Griffith(Johns Hopkins University), Renan Paulo Martin(Johns Hopkins University), Corina Antonescu(Johns Hopkins University), Jennifer E. Posey(Baylor College of Medicine), Zeynep Coban‐Akdemir(Baylor College of Medicine), Shalini N. Jhangiani(Baylor College of Medicine), Kimberly F. Doheny(Johns Hopkins University), James R. Lupski(Baylor College of Medicine), David Valle(Johns Hopkins University), Michael J. Bamshad(University of Washington), Ada Hamosh(Johns Hopkins University), Assaf Sheffer(FX Palo Alto Laboratory), Jessica X. Chong(University of Washington), Yaron Einhorn(FX Palo Alto Laboratory), Miro Cupak(DNASTAR (United States)), Nara Sobreira(Johns Hopkins University)
Cited by 44Open Access
Abstract
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 Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
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