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Gene Finder
This resource has links to important educational and research websites and databases. The collated information in each is annotated and indexed and regularly updated by experts.
Browse the sites, which may be of use
- if you want to do some more background reading about genetics, human genomics or cancer genetics.
- To identify published research.
- To identify particular gene variants that underlie monogenic disorders, or that are associated with multifactorial disease traits; or pharmacogenetics.
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Information |
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This is a curated and regularly updated database of all Mendelian disorders. It describes about 4,000 individual diseases. Each OMIM entry has its own specific number linked to a disease and associated gene variants. Standard nomenclature is used that is congruent with that used by the Human Genome Organisation. The research that led to the identification of key genetic variants, many of which will be kindred-specific or private mutations, is comprehensively described. |
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This database lists and describes about 1000 traits including common monogenic disorders and is curated by the United States’ National Library of Medicine. It also has a useful educational handbook. |
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The Public Health Genetics (phg) Foundation Clinical Champions |
The Clinical Champions initiative has been developed by the Public Health Genetics Foundation, which is a health policy think tank. It has produced a series of expertly- curated-factsheets about genomic medicine. Each factsheet is tailored to particular clinical specialties, for example, cardiology, endocrinology, and general practice. |
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This National Human Genome Research Institute (NHGRI) glossary features more than 250 common genetic terms. Each term is explained in a narration and written description. In addition to definitions, specialists in the field of genetics share their educational resources. |
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URL and Title |
Description |
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This catalogue is maintained by the United States’ National Genetic Research Institute. Published genome wide association studies are searchable by disease (organised into 17 categories) or gene or SNP or locus. Searches can be refined according to effect size and by p-value of associations found. |
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This valuable, searchable resource is managed by Stanford University and it appraises primary published research about pharmacogenomics and stratified medicine. It annotates important genetic variants and Pharmacogenetic pathway. Its clinical information includes drug-dosing guidelines. Curation includes comments on study quality and the clinical validity and utility of genetic markers. |
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This is a searchable database of all human genes. Standard nomenclature is used throughout but so are synonyms. The integrated database provides information about gene function; sequence variants; mapping and information about associated disease traits. |
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The gnomAD database contains searchable exome sequence data. Here is a link to Nature journal’s recent collection of research articles and content from the gnomAD Consortium: https://www.nature.com/immersive/d42859-020-00002-x/index.html |
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The ENCODE consortium is compiling a list of functional elements within the genome. Regulatory elements may act at the RNA level or at the level of the protein. Regulatory mechanisms include the differential binding of transcription factors and variations in chromatin state.Data is a searchable and freely available. |
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The ICGC publishes data from cancer genetic studies and provides tools for the analysis of their data. Their stated goal is “to obtain a comprehensive description of genomic, transcriptomic and epigenomic changes in 50 different tumor types and/or subtypes which are of clinical and societal importance across the globe” |
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