Essentials - Websites
Phenotype
- Online Mendelian Inheritance in Man (OMIM)
- GeneReviews: Expert curated
Genetic testing
- Genetic Testing Registry GTR - This website is unfortunately not maintained anymore.
American College of Medical Genetics - Variant Classification
Small variants (single nucleotide variants/indels) effect prediction based on the ACMG 2015 Guideline.
- Genetic Variant Interpretation tools: simply “adding criteria” together (full manual annotations required
- University of Maryland
- InterVar: the input variant is partially annotated with information from databases
Essentials - Databases
Genomic Annotations
- UCSC (University of California Santa Cruz) Genome Browser
- Ensembl Project - Human Genome Assembly
Population Databases
- dbSNP
- ExAc (Exome Aggregation Consortium) and gnomAD (Genome Aggregation Database)
- Note. Contains data from the 1000 Genome Project and The Cancer Genome Atlas germline blood samples. If you are working with Hereditary Cancer Predisposition data, perhaps you should download the ExAc “TCGA-free VCF” dataset.
Disease/variants Databases
In silico prediction tools
(under construction)
Cytogenetics
- Normal copy number variants (CNV): Database of Genomic Variants (DGV)
- Disease-causing CNV: DECIPHER database
Genetic Resources Education
- National Human Genome Research Institute - Online Genetics Education Resources