Toward automation of germline variant curation in clinical cancer genetics

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

(2018) Chunling Hu et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

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

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

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

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

(2017) Diana Mandelker et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Multigene Testing for Hereditary Cancer: When, Why, and How

(2017) Kenneth Offit   Journal of the National Comprehensive Cancer Network

Integrative clinical genomics of metastatic cancer

(2017) Dan R. Robinson et al.   NATURE

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

(2017) Ronak Y. Patel 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

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

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

TP53Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data

(2016) Liacine Bouaoun et al.   HUMAN MUTATION

BRCA Share: A Collection of Clinical BRCA Gene Variants

(2016) Christophe Béroud et al.   HUMAN MUTATION

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

PALB2,CHEK2andATMrare variants and cancer risk: data from COGS

(2016) Melissa C Southey et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

(2016) Colin C. Pritchard et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

(2016) J. Vijai et al.   Cancer Discovery

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

(2015) Steven N. Hart et al.   BRIEFINGS IN BIOINFORMATICS

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

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinGen — The Clinical Genome Resource

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

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

(2015) Andrea Desmond et al.   JAMA Oncology

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer

(2013) M. Janatova et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

(2013) Lucia Guidugli et al.   HUMAN MUTATION

The Curation of Genetic Variants: Difficulties and Possible Solutions

(2012) Kapil Raj Pandey et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

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