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2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

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Bruel, Ange-Line | Vitobello, Antonio | Mau-Them, Frédéric Tran | Nambot, Sophie | Duffourd, Yannis | Quéré, Virginie | Kuentz, Paul | Garret, Philippine | Thevenon, Julien | Moutton, Sébastien | Lehalle, Daphne | Jean-Marçais, Nolwenn | Garde, Aurore | Delanne, Julian | Lefebvre, Mathilde | Lecoquierre, François | Trost, Detlef | Cho, Megan, T | Begtrup, Amber | Telegrafi, Aida | Vabres, Pierre | Mosca-Boidron, Anne-Laure | Callier, Patrick | Philippe, Christophe | Faivre, Laurence | Thauvin-Robinet, Christel

Edité par CCSD ; Nature Publishing Group -

International audience. Exome sequencing (ES) powerfully identifies the molecular bases of heterogeneous conditions such as intellectual disability and/or multiple congenital anomalies (ID/MCA). Current ES analysis, combining diagnosis analysis restricted to disease-causing genes reported in OMIM database and subsequent research investigation extended to other genes, indicated causal and candidate genes around 40% and 10%. Nonconclusive results are frequent in such ultrarare conditions that recurrence and genotype-phenotype correlations are limited. International data-sharing permits the gathering of additional patients carrying variants in the same gene to draw definitive conclusions on their implication as disease causing. Several web-based tools have been developed and grouped in Matchmaker Exchange. In this study, we report our current experience as a regional center that has implemented ES as a first-line diagnostic test since 2013, working with a research laboratory devoted to disease gene identification.

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