Reagents and Resources
NCBI - dbSNP Short Genetic Variations
The Single Nucleotide Polymorphism database (dbSNP) is a public-domain archive for a broad collection of simple genetic polymorphisms.
UCSC Genome Bioinformatics
This UCSC Genome Browser website contains the reference sequence and working draft assemblies for a large collection of genomes.
GTEx
The Genotype-Tissue Expression Project is a publicly available resource that provides correlations between millions of genetic variants and gene expression level (expression quantitative trait loci: eQTL) in many tissues.
The ENCODE Project at UCSC Genome Browser
The Encyclopedia of DNA Elements (ENCODE) hosted at the UCSC Genome Browser provides a comprehensive list of functional elements (active promoters, enhancers, transcription factor binding sites) and gene expression in an expanding list of cell lines and tissues.
LDLink
LDlink is a suite of web-based applications designed to easily and efficiently interrogate linkage disequilibrium in population groups. All population genotype data originates from Phase 3 (Version 5) of the 1000 Genomes Project, and variant RS numbers are indexed based on dbSNP. Where coordinates are specified, GRCh37/hg19 is used. Only bi-allelic variants are permitted as input.
RegulomeDB
RegulomeDB is a database that annotates SNPs with known and predicted regulatory elements in the intergenic regions of the human genome. Known and predicted regulatory DNA elements include regions of DNAase hypersensitivity, binding sites of transcription factors, and promoter regions that have been biochemically characterized to regulation transcription. Sources of these data include public datasets from GEO, the ENCODE project, and published literature.
GWAS Catalog
The NHGRI-EBI Catalog of published genome-wide association studies.
Type 2 Diabetes Knowledge Portal
The portal, funded by the Accelerating Medicines Partnership, provides data and tools to promote understanding and treatment of Type 2 diabetes and its complications.
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