IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide | HTML
Pathogenic single nucleotide variants in BIC and ClinVar | Download Table
Cancers | Free Full-Text | Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation | HTML
Search-and-replace genome editing without double-strand breaks or donor DNA | Nature
Bioinformatics as a tool for understanding clinically significant var…
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
New & Improved ClinVar Annotations - VarSeq Software
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
VCF‐Server: A web‐based visualization tool for high‐throughput variant data mining and management - Jiang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Using dbSNP and ClinVar to Classify Gene Variants
Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study | JCO Precision Oncology
Enabling openness of valuable information resources: Curbing data subtractability and exclusion - Vassilakopoulou - 2019 - Information Systems Journal - Wiley Online Library
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases | SpringerLink
Get clinVar info for SNP with VEP
IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide | HTML
ClinGen — The Clinical Genome Resource | NEJM
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic - Annals of Oncology
Genes | Free Full-Text | Annotation of Human Exome Gene Variants with Consensus Pathogenicity | HTML
New & Improved ClinVar Annotations - VarSeq Software
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
ClinVar - ClinGen | Clinical Genome Resource
