Abstract
Genome-wide association studies (GWAS) have identified thousands of single nucleotide polymorphisms (SNPs) associated with the risk of hundreds of diseases. However, there is currently no database that enables non-specialists to answer the following simple questions: which SNPs associated with diseases are in linkage disequilibrium (LD) with a gene of interest? Which chromosomal regions have been associated with a given disease, and which are the potentially causal genes in each region? To answer these questions, we use data from the HapMap Project to partition each chromosome into so-called LD blocks, so that SNPs in LD with each other are preferentially in the same block, whereas SNPs not in LD are in different blocks. By projecting SNPs and genes onto LD blocks, the DistiLD database aims to increase usage of existing GWAS results by making it easy to query and visualize disease-associated SNPs and genes in their chromosomal context. The database is available at http://distild.jensenlab.org/.
Original language | English |
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Journal | Nucleic Acids Research |
Volume | 40 |
Issue number | Database issue |
Pages (from-to) | D1036-40 |
ISSN | 0305-1048 |
DOIs | |
Publication status | Published - 2012 |
Keywords
- Databases, Nucleic Acid
- Disease
- Genome-Wide Association Study
- Linkage Disequilibrium
- Molecular Sequence Annotation
- Polymorphism, Single Nucleotide
- User-Computer Interface