Sources of discordance among germ-line variant classifications in ClinVar

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes

(2017) Robert L. Nussbaum et al.   JOURNAL OF CLINICAL ONCOLOGY

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

(2017) Yuya Kobayashi et al.   Genome Medicine

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

(2016) Kara N. Maxwell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

(2016) Kathryn B. Garber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation in Mammographic Breast Density Assessments Among Radiologists in Clinical Practice

(2016) Brian L. Sprague et al.   ANNALS OF INTERNAL MEDICINE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Long QT Syndrome and Potentially Pathogenic Genetic Variants

(2016) Leslie G. Biesecker   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

(2016) Judith Balmaña et al.   JOURNAL OF CLINICAL ONCOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

(2015) Wei Song 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

Diagnostic Concordance Among Pathologists Interpreting Breast Biopsy Specimens

(2015) Joann G. Elmore et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ClinGen — The Clinical Genome Resource

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

ClinVar: public archive of interpretations of clinically relevant variants

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

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

The next controversy in genetic testing: clinical data as trade secrets?

(2012) Robert Cook-Deegan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION