ClinVar - ClinGen | Clinical Genome Resource
Enabling openness of valuable information resources: Curbing data subtractability and exclusion - Vassilakopoulou - 2019 - Information Systems Journal - Wiley Online Library
Breda Genetics | ClinVar or HGMD? Which is the best?
ClinGen — The Clinical Genome Resource | NEJM
Search-and-replace genome editing without double-strand breaks or donor DNA | Nature
Bioinformatics as a tool for understanding clinically significant var…
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants | PNAS
ClinGen — The Clinical Genome Resource | NEJM
VCF‐Server: A web‐based visualization tool for high‐throughput variant data mining and management - Jiang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Get clinVar info for SNP with VEP
Pecan PIE - St. Jude Cloud Documentation
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants | Genetics in Medicine
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
Get clinVar info for SNP with VEP
Genes | Free Full-Text | Annotation of Human Exome Gene Variants with Consensus Pathogenicity | HTML
ClinVar - ClinGen | Clinical Genome Resource
Pathogenic single nucleotide variants in BIC and ClinVar | Download Table
Bioinformatics as a tool for understanding clinically significant var…
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic - Annals of Oncology
Screenshot from ClinVar: a consolidated view of interpretations for a... | Download Scientific Diagram
IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide | HTML
Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases | SpringerLink
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
