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Intersections between clinical variant databases

<p>The upset plots visualize the distribution of 990 unique validated variants from patients with MDS/AML detected in seven public datasets (https://www.ncbi.nlm.nih.gov/bioproject/PRJNA388411) among clincal variant databases as well as the overlap between the different databases.</p> <p><strong>A</strong> Distribution of the variants with therapeutic implications (tier I)</p> <p><strong>B </strong>Distribution of the variants with diagnostic and/or prognostic implications or disease association (tier II)</p> <p><strong>C</strong> Distribution of the variants of unclear significance (tier III)<br> &nbsp;</p> <p><strong>List of abbreviations:</strong></p> <p>Cancer Genome Interpreter&rsquo;s variants database (CGI)</p> <p>Clinical Interpretations of Variants in Cancer database (CIVIC)</p> <p>Clinical Variants database of the National Center for Biotechnology Information (ClinVar)</p> <p>Catalogue Of Somatic Mutations In Cancer (COSMIC)</p> <p>Database of Curated Mutation (DOCM)</p> <p>Human Gene Mutation Database (HGMD)</p> <p>Jackson Laboratory Clinical Knowledgebase (JAX)</p> <p>MolecularMatch database (MM)</p> <p>Oncology Knowledge Base (OncoKB)</p> <p>Pharmacogenomics Knowledgebase (PharmGKB)</p> <p>Phenotype for ENCODE (PhenCode)</p> <p>&nbsp;</p>

ShareScore

40/100

Overall dataset sharing score

Score breakdown

These five areas show where the dataset supports — or may limit — practical reuse.

Stewardship
8
Harmonization
4
Access
20
Reuse readiness
8
Engagement
0

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