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


CONCLUSIONS
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.
Liu
Chuan-Kun
CK
National Genotyping Center, Academia Sinica, Taipei, Taiwan 11529, R.O.C. chuankun@ibms.sinica.edu.tw
Chen
Yan-Hau
YH
Tang
Cheng-Yang
CY
Chang
Shu-Chuan
SC
Lin
Yi-Jung
YJ
Tsai
Ming-Fang
MF
Chen
Yuan-Tsong
YT
Yao
Adam
A
D000818:Animals; D001331:Automation; D019295:Computational Biology / Q000379:methods*; D014644:Genetic Variation; D016678:Genome; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D051379:Mice; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011381:Programming Languages; D012306:Risk; D017422:Sequence Analysis, DNA / Q000379:methods; D012984:Software