How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?

The Streetlight Effect: Regulating Genomics Where the Light Is

(2020) Barbara J. Evans   JOURNAL OF LAW MEDICINE & ETHICS

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

(2019) Wylie Burke et al.   GENETICS IN MEDICINE

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

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

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project

(2018) J Scott Roberts et al.   GENETICS IN MEDICINE

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

(2018) Marsha M. Wheeler et al.   GENETICS IN MEDICINE

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

(2018) Somak Roy et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Pathology and genetics of hereditary colorectal cancer

(2018) Huiying Ma et al.   PATHOLOGY

Insurance coverage for genomic tests

(2018) Kathryn A. Phillips et al.   SCIENCE

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

(2017) Saskia C Sanderson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp 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

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

(2017) Lawrence J. Jennings et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

(2017) Ira M. Lubin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Communication challenges for nongeneticist physicians relaying clinical genomic results

(2017) Nonie S Arora et al.   Personalized Medicine

Insurance for broad genomic tests in oncology

(2017) Rebecca Eisenberg et al.   SCIENCE

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

How to Define Pathogenicity, Health, and Disease?

(2016) Mauno Vihinen   HUMAN MUTATION

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Participants and Study Decliners’ Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing

(2016) Jill Oliver Robinson et al.   Journal of Empirical Research on Human Research Ethics

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

Solving the Problem of Overdiagnosis

(2016) Joann G. Elmore   NEW ENGLAND JOURNAL OF MEDICINE

Are physicians prepared for whole genome sequencing? a qualitative analysis

(2015) K.D. Christensen et al.   CLINICAL GENETICS

Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges

(2014) Patricia A. Deverka et al.   JOURNAL OF LAW MEDICINE & ETHICS

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

(2012) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Efficient storage of high throughput DNA sequencing data using reference-based compression

(2011) M. Hsi-Yang Fritz et al.   GENOME RESEARCH

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

(2010) Richard R. Fabsitz et al.   Circulation-Cardiovascular Genetics

The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop

(2009) Muin J Khoury et al.   GENETICS IN MEDICINE