Table 2.
Resources for clinical genome sequencing variant interpretation
| Category | Organization/Entity | Year | Resource | Reference |
|---|---|---|---|---|
| Germline Sequence Variants | ||||
| HGMD | 2003 | Collection of published germline variants implicated in human inherited disease | Stenson et al63 | |
| AMP/ACMG | 2015 | Standards and guidelines for the interpretation of sequence variants | Richards et al62 | |
| ClinGen | 2015 | SVI Working Group recommendations on using the ACMG/AMP guidelines | Rehm et al64 | |
| ClinGen | 2015 | SVI Expert-Panel-specified ACMG/AMP variant interpretation guidelines | Rehm et al64 | |
| ClinVar | 2016 | Database of genetic variation and clinical interpretation | Landrum et al61 | |
| gnomAD | 2017 | Aggregated exome and genome sequencing population database | Karczewski et al60 | |
| CPIC | 2017 | Standardized pharmacogenomic allele function and phenotype terms | Caudle et al65 | |
| OMIM | 2019 | Database of human genes and genetic disorders | Amberger et al66 | |
| UK-ACGS | 2020 | Practice guidelines for variant classification in rare disease | Ellard et al67 | |
| PharmGKB | 2021 | Comprehensive resource of pharmacogenomic variation and knowledge | Whirl-Carrillo et al68 | |
| TOPMed | 2021 | Aggregated genome sequencing population database | Taliun et al69 | |
| GenCC | 2022 | Mendelian disease gene curation database | DiStefano et al70 | |
| Germline Structural Variants | ||||
| DECIPHER | 2009 | Interactive web-based database of human genomic variation and phenotypes | Firth et al71 | |
| DGV | 2014 | Curated collection of structural variations in the human genome | MacDonald et al72 | |
| ClinGen | 2018 | Human gene dosage sensitivity map | Riggs et al73 | |
| ACMG/ClinGen | 2020 | Technical standards for the interpretation and reporting of constitutional CNVs | Riggs et al74 | |
| Mitochondrial Variants | ||||
| MitoMap | 1996 | Compendium of variants in human mtDNA | Kogelnik et al75 | |
| ClinGen (mtDNA) | 2020 | Adapted ACMG/AMP standards and guidelines for mtDNA variant interpretation | McCormick et al76 | |
ACGS, Association for Clinical Genomic Science; ACMG, American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology; ClinGen, Clinical Genome Resource; CPIC, Clinical Pharmacogenetics Implementation Consortium; DGV, Database of Genomic Variants; GenCC, Gene Curation Coalition; gnomAD, Genome Aggregation Database; HGMD, Human Gene Mutation Database; OMIM, Online Mendelian Inheritance in Man; PharmGKB, Pharmacogenomics Knowledgebase; TOPMed, Trans-Omics for Precision Medicine.