Genomics in Practice ▲ Genomics|Update|Current

Genomics|Update|Current

Genomics in Practice

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha et al. Nature Genetics, August 3, 2014

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding.
Susanne B Haga et al. Genome Medicine, July 31, 2014

Genetics patients' perspectives on clinical genomic testing.
McGowan ML, et al. Per Med. 2013 Jun 1;10(4):339-347.

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys. 
Elaine Lyon PhD et al. Genetics in Medicine, July 31, 2014.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: Implications for the return of incidental results.
Tabor HK, et al. Am J Hum Genet. 2014 Jul 30. pii: S0002-9297(14)00315-2.

NIH seeks to illuminate the druggable genome with new project, GEN News Highlights, Jul 31