This page provides information that is likely to be useful to professionals in clinical genetics/genomics e.g. information about individual clinical conditions (GeneReviews, OMIM and Orphanet), individual genetic variants (DECIPHER, LOVD, ClinVar, HGMD, VarSome, CanVar & VEP), transcript identification (LRG) and variant nomenclature (HGVS). Professionals are also likely to find sources that are listed on other pages here to be of relevance and interest, particularly the Universities page (including the genome browsers) and the Ethical, Legal and Social Implications page.
This page provides information that is likely to be useful to professionals in clinical genetics/genomics e.g. information about individual clinical conditions (GeneReviews, OMIM and Orphanet), individual genetic variants (DECIPHER, LOVD, ClinVar, HGMD, VarSome, CanVar & VEP), transcript identification (LRG) and variant nomenclature (HGVS). Professionals are also likely to find sources that are listed on other pages here to be of relevance and interest, particularly the Universities page (including the genome browsers) and the Ethical, Legal and Social Implications page.
GeneReviewsThis database contains a large number of reasonably comprehensive, disease-orientated, reviews. They are generally expert-authored and easy to read, containing clinical features, differential diagnoses and molecular details.
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OMIMAn online, highly detailed, reference catalogue, listing human genetic conditions & their related genes. Initially compiled by the late Victor McKusick it now contains >24,000 entries & includes valuable links to other databases e.g. ClinVar.
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OrphanetA portal for rare diseases & orphan drugs.
Database of numerous short articles regarding rare diseases and disease genes. Organisation is based in Paris. |
DECIPHERAn interactive database with a suite of tools to aid interpretation of genomic variants. It retrieves information from a variety of bioinformatics resources. To help interpretation, a patient’s variant is displayed together with levels of normal variation and pathogenic variation at that locus.
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LOVDLeiden Open Variation Database (LOVD): an online gene-centered collection and display of DNA variations. Contains a large body of variant data plus valuable updated details of, and links to, an enormous number of other international DNA variant databases.
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ClinVarA database of genetic variants, based at the NCBI in USA, containing in a single database, hundreds of thousands of records, regarding specific gene variants, the degree of pathogenicity of each variant and the evidence supporting that.
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gnomAD (genome Aggregation Database)The genome Aggregation Database (gnomAD) contains over 120,000 exome sequences plus over 15,000 whole-genome sequences. It is far larger than ExAC (containing approximately 60,000 exomes), which preceded gnomAD.
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Human Genome
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Locus Reference
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Human Gene
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Glossary & Quiz Apps
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European
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Genetic/genomic variant interpretation
VarSome DNA variant analysisVarSome provides analysis of individual genetic variants, one at a time. Permitted input formats include HGVS nomenclature for DNA-level and protein (amino acid) level variants (but not protein-level frameshift variants entries, as not sufficiently specific). Also provides automated variant interpretation using ACMG-guidelines.
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Cancer predisposition gene Variant DatabaseA resource for cancer predisposition gene variant interpretation. Uses multiple data sources to classify variants, including shared data from NHS diagnostic laboratories on BRCA variants to enable case:control comparisons with population data. Includes both automated and curated classifications. Contains links to functional analyses eg saturation genome editing BRCA1 haploid cell assay.
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Variant Effect Predictor (VEP)Variant Effect Predictor (VEP), part of the Ensembl Genome Browser, provides automated interpretation of single or multiple genetic variants. It provides Polyphen and SIFT analysis scores and also provides frequency data from ExAC and gnomAD.
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Localized/national initiatives
England
Health Education England: Genomics Education Programme
France
France Genomique: training
Germany
Mediathek Humangenetik
First German Academy for Further Medical Training on Rare Diseases (FAKSE)
Scotland
Scottish Genetics Education Network (ScotGEN)
Scottish Genomes Partnership (see Patients & Families)
England
Health Education England: Genomics Education Programme
France
France Genomique: training
Germany
Mediathek Humangenetik
First German Academy for Further Medical Training on Rare Diseases (FAKSE)
Scotland
Scottish Genetics Education Network (ScotGEN)
Scottish Genomes Partnership (see Patients & Families)