2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases - Université de Bourgogne Accéder directement au contenu
Article Dans Une Revue Genetics in Medicine Année : 2019

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

Detlef Trost
  • Fonction : Auteur

Résumé

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.

Mots clés

Dates et versions

hal-01978260 , version 1 (11-01-2019)

Identifiants

Citer

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, In press, ⟨10.1038/s41436-018-0383-z⟩. ⟨hal-01978260⟩
212 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More