Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

(2020) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

(2020) Alice B. Popejoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frequency of genomic secondary findings among 21,915 eMERGE network participants

(2020)   GENETICS IN MEDICINE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2019)   GENETICS IN MEDICINE

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants

(2019) Christopher M. Haggerty et al.   CIRCULATION

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives

(2019) F. Houdayer et al.   European Journal of Medical Genetics

Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies

(2019) Jill O. Robinson et al.   GENETICS IN MEDICINE

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

(2019) Ye Cao et al.   Genome Medicine

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

(2019) Hana Zouk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

(2019) Steven M. Harrison et al.   Genome Medicine

Clinical providers’ experiences with returning results from genomic sequencing: an interview study

(2018) Julia Wynn et al.   BMC Medical Genomics

Secondary findings in exome slices, virtual panels, and anticipatory sequencing

(2018) Leslie G. Biesecker   GENETICS IN MEDICINE

Response to Mendelsohn and Sabbadini

(2018) Leslie G. Biesecker   GENETICS IN MEDICINE

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

(2018) Marci L.B. Schwartz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

(2018) Julie C. Sapp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

(2018) Pascal Pujol et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

(2018) J. Delanne et al.   European Journal of Medical Genetics

Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine

(2018) Edward D. Esplin et al.   GENETICS IN MEDICINE

Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

(2018) Myra I. Roche et al.   GENETICS IN MEDICINE

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

(2018) M.J. Szego et al.   European Journal of Medical Genetics

Response to Esplin et al.

(2018) Leslie G. Biesecker   GENETICS IN MEDICINE

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

(2018) M. Ragan Hart et al.   GENETICS IN MEDICINE

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

(2018) Alice B. Popejoy et al.   HUMAN MUTATION

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

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

(2017) Elizabeth Ormondroyd et al.   GENETICS IN MEDICINE

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

(2017) Anne-Marie Laberge   GENETICS IN MEDICINE

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

(2017) Scott D Grosse et al.   GENETICS IN MEDICINE

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research

(2016) Andrew J. Darnell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

(2016) Julianne M. O’Daniel et al.   GENETICS IN MEDICINE

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

(2016) Michael P. Mackley 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

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

(2016) J A Anderson et al.   JOURNAL OF MEDICAL ETHICS

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

(2015) Carlos J. Gallego et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer 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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

Reporting genomic secondary findings: ACMG members weigh in

(2014) Maren T. Scheuner et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

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

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases

(2011) Kandelaria Rumilla et al.   JOURNAL OF MOLECULAR DIAGNOSTICS