Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Smith, Erica D

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. [electronic resource] - Human mutation 05 2017 - 600-608 p. digital

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

1098-1004

10.1002/humu.23183 doi


Exome
Genetic Association Studies--methods
Genomics--methods
High-Throughput Nucleotide Sequencing
Humans
Reproducibility of Results
Sequence Analysis, DNA