P565: GeneMatcher-facilitated collaborative research ends diagnostic odysseys: From candidate gene cohorts to diagnostic reports*

Genetics in Medicine Open 2026 Open access

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Authors: Olivia L Redlich, Bobbi McGivern, Michelle Morrow, Dana Mitchell, Sarah Poll, Amber Begtrup, Deanna Alexis Carere, Amy Crunk, Flavia M. Facio, Julie Frank, María J. Guillen Sacoto, Britt Johnson
+12 more Jane Juusola, Kirsten Kelly, Patricia Lopes, Alison Muir, Melanie Napier, Amanda Noyes, Lindsay Rhodes, Rasim Özgür Rosti, Ingrid M. Wentzensen, Krystal Brown, Kirsty M. McWalter, Erin E. Torti
DOI: 10.1016/j.gimo.2026.104056
Cited by: 0

Abstract

GeneMatcher is a node of the Matchmaker Exchange that connects clinicians and researchers who share an interest in a particular candidate gene, with the intent of identifying novel disease genes underlying rare monogenic diseases. For over a decade, GeneDx has submitted candidate gene findings from exome/genome sequencing (ES/GS) to GeneMatcher, accounting for 22% of over 105,000 total submissions. Through the resulting matches, clinicians ordering GeneDx ES/GS are connected to researchers and facilitate their patients’ participation in gene discovery cohorts.

Fields of Study & Subjects

Genomics and Rare Diseases Connective tissue disorders research Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104056–104056
Publication date
1 January 2026
Language
EN