01/01/2013: pfSNP query interface is tested to be able to accomodate large number of SNPs (up to 30K) in one query. Querying more SNPs is possible. You are welcomed to try out and leave feedback on the upper limit via the "contact us" link. We thank Dr. Mcquillin Andrew from UCL for sharing the test data with us.
21/10/2011: User interface has been upgraded to V5. Key features include:
1. User would no longer be bothered by the "No query criteria given" problem caused by forgetting to tick the query criteria checkbox.
2. A graphical interface is provided to arrange multiple query criteria according different join logic. It's also possible to exclude some query criteria and the impact of such change can be viewed instantly on the query criteria summary page.
3. Detailed SNP function category filter can be applied on the query result page which enables user to quickly see SNP in each category.
4. The "gene information summary table with text clouds highlighting enriched term" feature now has gene count for each feature besides using font size as the indication of enrichment.
5. The "gene information summary table with text clouds highlighting enriched term" feature is now available on the TF summary page. If a group of TF whose binding sites get changed by a SNP, user can easily see if such TF has certain feature in common and generate new hypothesis. (e.g.: The TFs are implicated in the same disease before therefore the SNP can be important for the disease as well?)
6. More detailed error trapping and in-page help to keep user informed if error occurs.
7. Reduced page loading time by redesigning some features and page content compression.
16/06/2011: You can now query by chromosome cytoband and also filter for SNPs on commercial chips.
16/05/2011: 3’UTR SNPs that are associated with differences in gene expression added. Data courtesy of Miss Jin Yu.
13/05/2011: Polyphen prediction is updated to Polyphen-2
for AA function prediction is added.
09/05/2011: You can now get pfSNP in genes related to a drug by using its commercial name (e.g: Advicor for Lovastatin) instead of the generic name. Data courtesy of PharmGKB
04/02/2011: Retrieved new NHGRI GWAS Catalog results.
17/01/2011: We participate in NCBI Gene LinkOut programme as a meta database provider.
04/01/2011: Many thanks to Belinda M. Giardine from HbVar for sharing SNPs with reported functions affecting human hemoglobin phenotype and cause Thalassemia.
12/10/2010: Added more GWAS results from A. Johnson et al.