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. A Distribution of the variants with therapeutic implications (tier I) B Distribution of the variants with diagnostic and/or prognostic implications or disease association (tier II) C Distribution of the variants of unclear significance (tier III)
List of abbreviations: Cancer Genome Interpreter’s variants database (CGI) Clinical Interpretations of Variants in Cancer database (CIVIC) Clinical Variants database of the National Center for Biotechnology Information (ClinVar) Catalogue Of Somatic Mutations In Cancer (COSMIC) Database of Curated Mutation (DOCM) Human Gene Mutation Database (HGMD) Jackson Laboratory Clinical Knowledgebase (JAX) MolecularMatch database (MM) Oncology Knowledge Base (OncoKB) Pharmacogenomics Knowledgebase (PharmGKB) Phenotype for ENCODE (PhenCode)
List of abbreviations: Cancer Genome Interpreter’s variants database (CGI) Clinical Interpretations of Variants in Cancer database (CIVIC) Clinical Variants database of the National Center for Biotechnology Information (ClinVar) Catalogue Of Somatic Mutations In Cancer (COSMIC) Database of Curated Mutation (DOCM) Human Gene Mutation Database (HGMD) Jackson Laboratory Clinical Knowledgebase (JAX) MolecularMatch database (MM) Oncology Knowledge Base (OncoKB) Pharmacogenomics Knowledgebase (PharmGKB) Phenotype for ENCODE (PhenCode)