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iespējams apbrīna pusdienlaiks clinvar public archive of interpretations of clinically relevant variants Sargieties salvete Pabarojiet

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

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

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

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing | Journal of Clinical Oncology
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing | Journal of Clinical Oncology

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

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

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

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

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

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

ClinVar Archives - NCBI Insights
ClinVar Archives - NCBI Insights

EVA/ClinVar - include other clinical significant variant · Issue #1139 · opentargets/issues · GitHub
EVA/ClinVar - include other clinical significant variant · Issue #1139 · opentargets/issues · GitHub

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

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] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar
PDF] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar

ClinVar Archives - NCBI Insights
ClinVar Archives - 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

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

PDF] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar
PDF] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar

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

open-cravat
open-cravat

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

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

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

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

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics

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