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

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...

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Bibliographic Details
Published in:BMC bioinformatics 2008-12, Vol.9 Suppl 12 (S12), p.S10-S10, Article S10
Main Authors: Liu, Chuan-Kun, Chen, Yan-Hau, Tang, Cheng-Yang, Chang, Shu-Chuan, Lin, Yi-Jung, Tsai, Ming-Fang, Chen, Yuan-Tsong, Yao, Adam
Format: Article
Language:English
Subjects:
Animals
Automation
Computational Biology - methods
Genetic Variation
Genome
Genome, Human
Genomics
Humans
Mice
Mutation
Polymorphism, Single Nucleotide
Programming Languages
Risk
Sequence Analysis, DNA - methods
Software
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Summary: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. FANS http://fans.ngc.sinica.edu.tw/ 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. 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.
ISSN:1471-2105
1471-2105
DOI:10.1186/1471-2105-9-s12-s10