Variant‐level matching for diagnosis and discovery: Challenges and opportunities. Issue 6 (21st March 2022)

• Record Type: Journal Article
• Authors: 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
• Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 6(2022)
• Page Start: 782
• Page End: 790
• Publication Date: 2022-03-21
• Subjects: Data Connect -- Franklin -- Geno2MP -- Matching Tools -- MyGene2 -- variant‐level -- VariantMatcher; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24359
• Languages: English
• ISSNs: 1059-7794

Abstract

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).