Lionel, Anath C

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