pfSNP: An Integrated Potentially Functional SNP Resource That Facilitates Hypotheses Generation Through Knowledge Syntheses

作者：Wang Jingbo; Ronaghi Mostafa; Chong Samuel S; Lee Caroline G L^*

来源：Human Mutation, 2011, 32(1): 19-24.

DOI：10.1002/humu.21331

• single nucleotide polymorphism
• SNP
• Web resource

Currently, 414,000,000 single nucleotide polymorphisms (SNPs) are reported. Identifying phenotype-affecting SNPs among these many SNPs pose significant challenges. Although several Web resources are available that can inform about the functionality of SNPs, these resources are mainly annotation databases and are not very comprehensive. In this article, we present a comprehensive, well-annotated, integrated pfSNP (potentially functional SNPs) Web resource (http://pfs.nus.edu.sg/), which is aimed to facilitate better hypothesis generation through knowledge syntheses mediated by better data integration and a user-friendly Web interface. pfSNP integrates 440 different algorithms/resources to interrogate 414,000,000 SNPs from the dbSNP database for SNPs of potential functional significance based on previous published reports, inferred potential functionality from genetic approaches as well as predicted potential functionality from sequence motifs. Its query interface has the user-friendly "auto-complete, prompt-as-you-type'' feature and is highly customizable, facilitating different combination of queries using Boolean-logic. Additionally, to facilitate better understanding of the results and aid in hypotheses generation, gene/pathway-level information with text clouds highlighting enriched tissues/pathways as well as detailed-related information are also provided on the results page. Hence, the pfSNP resource will be of great interest to scientists focusing on association studies as well as those interested to experimentally address the functionality of SNPs. Hum Mutat 32:19-24, 2011.

• 出版日期2011-1