ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

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

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik 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

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

(2016) Jeffrey Kleinberger et al.   GENETICS IN MEDICINE

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

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

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

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1

(2011) E. S. Iversen et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE