Genomics in Practice

Colorectal cancer, epigenetics, venous thrombosis & more hot topics in today's CDC Genomics & Health Impact Update

Volume 34  Number 10  March 12-19, 2015

Genomics in Practice

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics
ACMG Board of Directors Genet Med March 12, 2015

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing. 
Nishimura AA et al. Genet. Med. 2015 Mar 5.

GeneYenta: A phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation. 
Gottlieb MM et al. Hum. Mutat. 2015 Feb 23.

Parent and public interest in whole-genome sequencing
Dodson D.S, et al. Public Health Genomics 2015 Mar 6

What’s your genetic destiny? More than half of parents want to know disease risks for selves, kids, Newswise, Mar 9

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment. 
Regier DA et al. CMAJ 2015 Mar 9.

Stakeholders' perspectives on biobank-based genomic research: systematic review of the literature. 
Husedzinovic A et al. Eur. J. Hum. Genet. 2015 Mar 4.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 
Richards S et al. Genet. Med. 2015 Mar 5.

ACMG issues new joint guidelines for determining disease-causing potential of DNA sequence variations in Genetics In Medicine, Laboratory Network, Mar 5

Whole exome sequencing of suspected mitochondrial patients in clinical practice. 
Wortmann S B et al. J. Inherit. Metab. Dis. 2015 Mar 4.