MatchmakerExchange

International federated network of genomic matchmaking services, facilitating discovery through the exchange of genotypic and phenotypic profiles

[MatchmakerExchange @MatchMExchange]

Special Issue just released of @WileyBiomedical Human Mutation “Matchmaker Exchange: Seven Years of Discovery and Collaboration” guest edited by Drs. Kym Boycott, @AdaHamosh and @HeidiRehm
https://t.co/L4mnXt5KZG (1/18)

[Broad Institute @broadinstitute]

A new, rare genetic disorder is the 1st human disease caused by loss of one copy of a long noncoding RNA gene. The family of Emma Broadbent, the first person diagnosed with the CHASERR-related disorder, was instrumental in the discovery & her diagnosis. https://t.co/a7W8cBZ21i

[Vijay Ganesh @VGaneshMDPhD]

Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 https://t.co/a0V99Xqjaw

[FUTURUMCareers @FUTURUMCareers]

Growing up with Charcot-Marie-Tooth disease motivated Prof James Lupski (@LupskiLab) to pursue a #career in #genetics. Read the inspiring story of how researchers in his #clinical #genomics lab discovered the gene responsible for James’ genetic condition: https://t.co/QpkufgC1HF

[MatchmakerExchange @MatchMExchange]

Thank you to all contributors to the special issue! Visit https://t.co/A5rC73eOus to learn more about Matchmaker Exchange and how it may fit into your work. There are many more gene-disease relationships yet to be discovered. (18/18)

[MatchmakerExchange @MatchMExchange]

Special Issue just released of @WileyBiomedical Human Mutation “Matchmaker Exchange: Seven Years of Discovery and Collaboration” guest edited by Drs. Kym Boycott, @AdaHamosh and @HeidiRehm
https://t.co/L4mnXt5KZG (1/18)

[MatchmakerExchange @MatchMExchange]

“Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery” https://t.co/gT2ltpBOKj reports on @C4RCanada web-accessible platform sharing Canadian phenotypic & multiomic data between researchers (17/18)