Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 04 2018
- 435-443 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2017.119 doi
Computational Biology--methods DNA Copy Number Variations Exome Female Genetic Association Studies--methods Genetic Diseases, Inborn--diagnosis Genetic Predisposition to Disease Genetic Testing--methods Genetic Variation Humans Male Molecular Sequence Annotation Phenotype Sequence Analysis, DNA--methods Exome Sequencing--methods Whole Genome Sequencing--methods