Article
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015
Jurgens Julie, Ling Hua, Hetrick Kurt, Pugh Elizabeth, Schiettecatte Francois, Doheny Kimberly, Hamosh Ada, Avramopoulos Dimitri, Valle David, Sobreira Nara
Abstract excerpt
PURPOSE: In March 2013 the American College of Medical Genetics and Genomics published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing be reported to patients. As an initial step in determining the practical consequences of this recommendation in the research setting, we searched for variants in these genes in 232 whole-exome...
Topics
- Databases, Nucleic Acid
- Exome
- Female
- Genetic Diseases, Inborn
- Genomics
- High-Throughput Nucleotide Sequencing
- Humans
- Incidental Findings
- Male
- Mutation