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

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

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

(2016) Robert C. Green 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

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 challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

(2015) Melanie G. Pepin 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

Diagnostic Concordance Among Pathologists Interpreting Breast Biopsy Specimens

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

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

Use of panel tests in place of single gene tests in the cancer genetics clinic

(2014) A. Yorczyk et al.   CLINICAL GENETICS

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

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