Ontology highlight
ABSTRACT:
SUBMITTER: Bruel AL
PROVIDER: S-EPMC6777617 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Bruel Ange-Line AL Nambot Sophie S Quéré Virginie V Vitobello Antonio A Thevenon Julien J Assoum Mirna M Moutton Sébastien S Houcinat Nada N Lehalle Daphné D Jean-Marçais Nolwenn N Chevarin Martin M Jouan Thibaud T Poë Charlotte C Callier Patrick P Tisserand Emilie E Philippe Christophe C Them Frédéric Tran Mau FTM Duffourd Yannis Y Faivre Laurence L Thauvin-Robinet Christel C
European journal of human genetics : EJHG 20190623 10
In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established human-disease genes. The diagnostic yield of cES in intellectual disability and/or multiple congenital anomalies (ID/MCA) is currently about 30%. Though the results may seem acceptable for rare diseases, they mean that 70% of affected individuals remain genetically undiagnosed. Further analysis extended to all mutated genes in a research environment ...[more]