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Screenshot from ClinVar: a consolidated view of interpretations for a... |  Download Scientific Diagram
Screenshot from ClinVar: a consolidated view of interpretations for a... | Download Scientific Diagram

Bioinformatics as a tool for understanding clinically significant var…
Bioinformatics as a tool for understanding clinically significant var…

Genes | Free Full-Text | Annotation of Human Exome Gene Variants with  Consensus Pathogenicity | HTML
Genes | Free Full-Text | Annotation of Human Exome Gene Variants with Consensus Pathogenicity | HTML

Pathogenic single nucleotide variants in BIC and ClinVar | Download Table
Pathogenic single nucleotide variants in BIC and ClinVar | Download Table

Enabling openness of valuable information resources: Curbing data  subtractability and exclusion - Vassilakopoulou - 2019 - Information  Systems Journal - Wiley Online Library
Enabling openness of valuable information resources: Curbing data subtractability and exclusion - Vassilakopoulou - 2019 - Information Systems Journal - Wiley Online Library

ClinGen — The Clinical Genome Resource | NEJM
ClinGen — The Clinical Genome Resource | NEJM

Bioinformatics as a tool for understanding clinically significant var…
Bioinformatics as a tool for understanding clinically significant var…

Simple ClinVar results section according to the three types of input... |  Download Scientific Diagram
Simple ClinVar results section according to the three types of input... | Download Scientific Diagram

Get clinVar info for SNP with VEP
Get clinVar info for SNP with VEP

ClinGen — The Clinical Genome Resource | NEJM
ClinGen — The Clinical Genome Resource | NEJM

Get clinVar info for SNP with VEP
Get clinVar info for SNP with VEP

ClinGen — The Clinical Genome Resource | NEJM
ClinGen — The Clinical Genome Resource | NEJM

PDF] Development of a Comprehensive NGS Workflow for the Analysis of Tumor  BRCA1 and BRCA2 Mutations and Large Rearrangements | Semantic Scholar
PDF] Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements | Semantic Scholar

New & Improved ClinVar Annotations - VarSeq Software
New & Improved ClinVar Annotations - VarSeq Software

New & Improved ClinVar Annotations - VarSeq Software
New & Improved ClinVar Annotations - VarSeq Software

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast  cancer cohort suggests that one-third of mutations are somatic - Annals of  Oncology
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic - Annals of Oncology

IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH  BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH  Guide | HTML
IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide | HTML

Simple ClinVar internal workflow and main module. (A) Information flow... |  Download Scientific Diagram
Simple ClinVar internal workflow and main module. (A) Information flow... | 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
IJMS | Free Full-Text | Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide | HTML

Breda Genetics | ClinVar or HGMD? Which is the best?
Breda Genetics | ClinVar or HGMD? Which is the best?

Using dbSNP and ClinVar to Classify Gene Variants
Using dbSNP and ClinVar to Classify Gene Variants

VCF‐Server: A web‐based visualization tool for high‐throughput variant data  mining and management - Jiang - 2019 - Molecular Genetics & Genomic  Medicine - Wiley Online Library
VCF‐Server: A web‐based visualization tool for high‐throughput variant data mining and management - Jiang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1  and BRCA2
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

ClinVar - ClinGen | Clinical Genome Resource
ClinVar - ClinGen | Clinical Genome Resource

Concordance of Genomic Variants in Matched Primary Breast Cancer,  Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study | JCO  Precision Oncology
Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study | JCO Precision Oncology