Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer - The Journal of Molecular Diagnostics
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML | Cancer Genomics & Proteomics
Variation Viewer
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting | SpringerLink
CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome | American Society of Nephrology
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease - Clinics in Laboratory Medicine
The ClinVar variation report
ACMG Implementation
Variation Viewer
HuVarBase: A human variant database with comprehensive information at gene and protein levels | PLOS ONE
DisGeNET - a database of gene-disease associations
dbVar Help & FAQ
ClinVar - ClinGen | Clinical Genome Resource
PDF] Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database | Semantic Scholar
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants | Genome Medicine | Full Text
Characterizing and Displaying Genetic Variants for Clinical Action Workshop
Resources for Population CNV Data: Database of Genomic Variants (DGV) - ClinGen | Clinical Genome Resource
Technical desiderata for the integration of genomic data with clinical decision support - ScienceDirect
ClinGen — The Clinical Genome Resource | NEJM
Frontiers | Workflow for the Implementation of Precision Genomics in Healthcare | Genetics
Using dbSNP and ClinVar to Classify Gene Variants
DoCM: a database of curated mutations in cancer | Nature Methods
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants | Genome Medicine | Full Text