Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Nambot, Sophie

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 06 2018 - 645-654 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1530-0366

10.1038/gim.2017.162 doi


Congenital Abnormalities--genetics
Databases, Genetic
Exome
Genetic Testing--methods
High-Throughput Nucleotide Sequencing--methods
Humans
Intellectual Disability--genetics
Rare Diseases--genetics
Retrospective Studies
Sequence Analysis, DNA--methods
Exome Sequencing--methods