How to use these sites How to use these sites

Use these databases to identify published research. These links are ideal for conducting primary and secondary research about monogenic disorders, multifactorial traits; sequence variants and pharmacogenetics. The collated information is annotated and indexed and regularly updated by experts.

Use links in the banners below to go to relevant web page or database Use links in the banners below to go to relevant web page or database

Catalog of Genome Wide Analysis Studies (GWAS)

This catalogue is maintained by the United States’ National Genetic Research Institute.  Published genome wide association studies are searchable by disease (organised into 17 trait-categories) or gene or SNP or locus. Searches can be refined according to effect size and by p-value of associations found.

Catalog of Genome Wide Analysis Studies (GWAS)

The Pharmacogenomics Knowledgebase

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 pathways. Its clinical information includes drug-dosing guidelines.  

Curation includes comments on study quality and the clinical validity and utility of genetic markers.

The Pharmacogenomics Knowledgebase

Gene Cards

This is a searchable database of all human genes. Standard nomenclature is used throughout but so are synonyms. The integrated database provides comprehensive information about gene function; sequence variants; mapping and any associated information about disease traits. 

Gene Cards

GenBank

This is the database of all publicly available DNA sequences from any organism, including humans. The data provided is comprehensive and up to date. It is maintained and annotated by the United States’ National Center for Biotechnology Information (NCBI).

GenBank

dbSNP (single nucleotide polymorphism database) 

The National Center for Biotechnology Information (NCBI) manages this database of all SNPs and other small scale sequence variants.

Each SNP has numerical identifiers; these include the reference SNP ID number (rs#).

Scientist can submit their findings of sequence variants to the database for inclusion and annotation.

dbSNP (single nucleotide polymorphism database)

The International Genome Sample Resource (IGSR)

This site contains the largest catalogue of human genetic variants identified by the 1000 Genomes Project research initiative between 2008 & 2015. The aim of the research was to identify most genetic variants with frequencies of at least 1 % in the populations studied.

The International Genome Sample Resource (IGSR)

The 100,000 Genomes Project

The 100,000 genomes project will sequence the genomes from people treated in the UK. Participants are NHS patients with a rare disease, plus their families, and patients with cancer. This website describes the progress of the project, and its research partnerships It has educational links and resources for health service professionals and for project participants.

The 100,000 Genomes Project

The genome Aggregation Database (gnomAD)

The gnomAD database contains searchable exome sequence data from 123,136 individuals and whole genome sequencing data from 15,496 individuals. The launch of the database and the ethnicities of the study participants are described in the this blog.

The genome Aggregation Database (gnomAD)