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atlaist zāle laksts clinvar public archive of interpretations of clinically relevant variants dziedēt Ražošanas centrs Sauja

Going to ASHG? Here's a sneak peek at our ClinVar poster - NCBI Insights
Going to ASHG? Here's a sneak peek at our ClinVar poster - NCBI Insights

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar | Genetics in Medicine
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar | Genetics in Medicine

New ClinVar graphical display - NCBI Insights
New ClinVar graphical display - NCBI Insights

Distribution of genetic variants according to ClinVar interpretation (N... | Download Scientific Diagram
Distribution of genetic variants according to ClinVar interpretation (N... | Download Scientific Diagram

ClinVar Archives - NCBI Insights
ClinVar Archives - NCBI Insights

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open-cravat

PDF) ClinVar: Public archive of relationships among sequence variation and human phenotype
PDF) ClinVar: Public archive of relationships among sequence variation and human phenotype

PDF) Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
PDF) Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

IJMS | Free Full-Text | Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
IJMS | Free Full-Text | Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

PDF] ClinVar: public archive of relationships among sequence variation and human phenotype | Semantic Scholar
PDF] ClinVar: public archive of relationships among sequence variation and human phenotype | Semantic Scholar

PDF] ClinVar: improving access to variant interpretations and supporting evidence | Semantic Scholar
PDF] ClinVar: improving access to variant interpretations and supporting evidence | Semantic Scholar

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar | Genetics in Medicine
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar | Genetics in Medicine

ClinVar Archives - NCBI Insights
ClinVar Archives - NCBI Insights

PDF] Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts | Semantic Scholar
PDF] Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts | Semantic Scholar

What is ClinVar? A database for variant interpretation! [Today's paper]
What is ClinVar? A database for variant interpretation! [Today's paper]

Just the Facts: Mastermind has 8X the Number of Variants Found in ClinVar - Genomenon
Just the Facts: Mastermind has 8X the Number of Variants Found in ClinVar - Genomenon

PDF] Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts | Semantic Scholar
PDF] Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts | Semantic Scholar

DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features | Nature Communications
DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features | Nature Communications

Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China

ClinVar - Database Commons
ClinVar - Database Commons

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades | Scientific Reports
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades | Scientific Reports

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine | medRxiv
Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine | medRxiv

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

Using ClinVar as a Resource to Support Variant Interpretation. - Abstract - Europe PMC
Using ClinVar as a Resource to Support Variant Interpretation. - Abstract - Europe PMC

New ClinVar graphical display - NCBI Insights
New ClinVar graphical display - NCBI Insights

Frontiers | Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation
Frontiers | Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation