False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Third party interpretation of raw genetic data: an ethical exploration

(2017) Lauren Badalato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

(2017) ACMG Board of Directors   GENETICS IN MEDICINE

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

(2017) Erica D. Smith et al.   HUMAN MUTATION

Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

(2017) Diane R Koeller et al.   Journal of Genetic Counseling

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

(2017) J. Scott Roberts et al.   Public Health Genomics

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Primary care providers’ cancer genetic testing-related knowledge, attitudes, and communication behaviors: A systematic review and research agenda

(2016) Jada G. Hamilton et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

(2016) Wenbo Mu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The genetics of Parkinson's disease

(2015) Stephen Mullin et al.   BRITISH MEDICAL BULLETIN

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

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

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY