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tarta Guau canto clinvar public archive of interpretations of clinically relevant variants Empuje Medicina Masaje

A harmonized meta-knowledgebase of clinical interpretations of somatic  genomic variants in cancer | Nature Genetics
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer | Nature Genetics

PDF) ClinVar: Public archive of interpretations of clinically relevant  variants
PDF) ClinVar: Public archive of interpretations of clinically relevant variants

What is ClinVar? A database for variant interpretation! [Today's pape…
What is ClinVar? A database for variant interpretation! [Today's pape…

Cells | Free Full-Text | A Next Generation Sequencing-Based Protocol for  Screening of Variants of Concern in Autism Spectrum Disorder
Cells | Free Full-Text | A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder

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

Assessment of an automated approach for variant interpretation in screening  for monogenic disorders: A single‐center study - Gall - Molecular Genetics  & Genomic Medicine - Wiley Online Library
Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study - Gall - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

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

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

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

ClinVar Archives - NCBI Insights
ClinVar Archives - 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

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

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 interpretations of clinically relevant  variants
PDF) ClinVar: Public archive of interpretations of clinically relevant variants

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

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

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: public archive of interpretations of clinically relevant variants
ClinVar: public archive of interpretations of clinically relevant variants

Putting variants into practice: ClinGen, ClinVar, and the challenge of  interpreting genetics in the clinic | Broad Institute
Putting variants into practice: ClinGen, ClinVar, and the challenge of interpreting genetics in the clinic | Broad Institute

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

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

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

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PDF] Simple ClinVar: an interactive web server to explore and retrieve gene  and disease variants aggregated in ClinVar database | Semantic Scholar
PDF] Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database | Semantic Scholar