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

Abstract : 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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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01978260
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : vendredi 11 janvier 2019 - 13:42:55
Dernière modification le : jeudi 6 juin 2019 - 15:22:02

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Ange-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, Sophie Nambot, Yannis Duffourd, et al.. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. Genetics in Medicine, Nature Publishing Group, In press, ⟨https://www.nature.com/articles/s41436-018-0383-z⟩. ⟨10.1038/s41436-018-0383-z⟩. ⟨hal-01978260⟩

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