Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

The BabySeq project: implementing genomic sequencing in newborns

(2018) Ingrid A. Holm et al.   BMC Pediatrics

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

(2018) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

(2018) Elizabeth M. Webber et al.   HUMAN MUTATION

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

(2018) Steven M. Harrison et al.   HUMAN MUTATION

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing

(2018) James T. Lu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

(2017) Matthew S Lebo et al.   GENETICS IN MEDICINE

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

(2016) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

(2015) Jonathan S. Berg et al.   GENETICS IN MEDICINE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Guidelines for quantifying iron overload

(2014) J. C. Wood   Hematology-American Society of Hematology Education Program

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2013) David Moher   ANNALS OF INTERNAL MEDICINE

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

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

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

Chapter 11: Genome-Wide Association Studies

(2012) William S. Bush et al.   PLoS Computational Biology

Genetic risk estimation in the Coriell Personalized Medicine Collaborative

(2011) Catharine B Stack et al.   GENETICS IN MEDICINE

Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services

(2010) K. Imai et al.   CLINICAL CHEMISTRY

Mendelian disorders and multifactorial traits: the big divide or one for all?

(2010) Stylianos E. Antonarakis et al.   NATURE REVIEWS GENETICS

Replication in Genome-Wide Association Studies

(2010) Peter Kraft et al.   STATISTICAL SCIENCE

The Quality of Meta-Analyses of Genetic Association Studies: A Review With Recommendations

(2009) Cosetta Minelli et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Prediction of individual genetic risk of complex disease

(2008) Naomi R Wray et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

CHEK2*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26,000 Patient Cases and 27,000 Controls

(2008) Maren Weischer et al.   JOURNAL OF CLINICAL ONCOLOGY