A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Colorectal Cancer Screening

(2017) Randall W. Burt et al.   Journal of the National Comprehensive Cancer Network

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Technology: The $1,000 genome

(2014) Erika Check Hayden   NATURE

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

(2013) Katrina A.B. Goddard et al.   GENETICS IN MEDICINE

Incidental findings in clinical genomics: a clarification

(2013)   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

(2012) Jakob Burcharth et al.   DIGESTIVE SURGERY

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Deflating the Genomic Bubble

(2011) J. P. Evans et al.   SCIENCE

Evidence and Value: Impact on DEcisionMaking – the EVIDEM framework and potential applications

(2008) Mireille M Goetghebeur et al.   BMC HEALTH SERVICES RESEARCH