Discovery of over 200 new and expanded genetic conditions using GeneMatcher. Issue 6 (27th February 2022)

• Record Type: Journal Article
• Authors: McWalter, K.; Torti, E.; Morrow, M.; Juusola, J.; Retterer, K.
• Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 6(2022)
• Page Start: 760
• Page End: 764
• Publication Date: 2022-02-27
• Subjects: candidate gene -- disease–gene relationships -- exome sequencing -- gene discovery -- GeneDx -- GeneMatcher -- research; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24351
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians and researchers, generating fruitful research collaborations. Our ultimate goal in reporting candidate gene findings is to amass sufficient evidence to establish novel disease–gene relationships (DGRs), thus providing diagnostic answers to families and clinicians. Our database of over 300, 000 clinical exomes has been a major driver of DGR discovery. Our laboratory accounts for over 20% of total GeneMatcher submissions. Largely fueled by GeneMatcher matches, we have published over 200 articles involving new DGRs or expanded phenotypes for known disease‐causing genes in the past three years. These endeavors require commitments to sharing data and dedicating resources to investigate potential matches. Ultimately, GeneMatcher enables collaboration on a broad scale: we are grateful to the clinicians, researchers, patients, and caregivers who have partnered with us to accelerate the pace of DGR discovery. GeneMatcher opens the door to new partnerships, new discoveries, and families finding answers that otherwise may not have been possible. Abstract : GeneDx GeneMatcher Connection Workflow