Functional analysis of novel SNPs and mutations in human and mouse genomes.

Journal Article (Journal Article)

BACKGROUND: With the flood of information generated by the new generation of sequencing technologies, more efficient bioinformatics tools are needed for in-depth impact analysis of novel genomic variations. FANS (Functional Analysis of Novel SNPs) was developed to streamline comprehensive but tedious functional analysis steps into a few clicks and to offer a carefully designed presentation of results so researchers can focus more on thinking instead of typing and calculating. RESULTS: FANS harnesses the power of public information databases and powerful tools from six well established websites to enhance the efficiency of analysis of novel variations. FANS can process any point change in any coding region or GT-AG splice site to provide a clear picture of the disease risk of a prioritized variation by classifying splicing and functional alterations into one of nine risk subtypes with five risk levels. CONCLUSION: FANS significantly simplifies the analysis operations to a four-step procedure while still covering all major areas of interest to researchers. FANS offers a convenient way to prioritize the variations and select the ones with most functional impact for validation. Additionally, the program offers a distinct improvement in efficiency over manual operations in our benchmark test.

Full Text

Duke Authors

Cited Authors

  • Liu, C-K; Chen, Y-H; Tang, C-Y; Chang, S-C; Lin, Y-J; Tsai, M-F; Chen, Y-T; Yao, A

Published Date

  • December 12, 2008

Published In

Volume / Issue

  • 9 Suppl 12 / Suppl 12

Start / End Page

  • S10 -

PubMed ID

  • 19091009

Pubmed Central ID

  • PMC2638150

Electronic International Standard Serial Number (EISSN)

  • 1471-2105

Digital Object Identifier (DOI)

  • 10.1186/1471-2105-9-S12-S10


  • eng

Conference Location

  • England