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
PDF) ClinVar: Public archive of interpretations of clinically relevant variants
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
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
PDF] ClinVar: public archive of relationships among sequence variation and human phenotype | Semantic Scholar
New ClinVar graphical display - NCBI Insights
PDF] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar
New ClinVar graphical display - NCBI Insights
ClinVar Archives - NCBI Insights
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
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) 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
PDF] ClinVar: improving access to variant interpretations and supporting evidence | Semantic Scholar
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
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China
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