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Variome Browser   v0.1 Cheng-Yang (Louis)  Tang BioIT at NGC 2008/11/28 http://vb.ngc.sinica.edu.tw
Variome Browser ,[object Object]
Variome Browser ,[object Object],[object Object]
Variome Browser ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Data
Target Bases 3' Intron Exon 5' Promoter Gene Structure 5’ UTR 3’ UTR CDS
Target Bases 3' Intron Exon 5' Promoter Gene Structure 5’ UTR 3’ UTR CDS A
Target Variations 3' 5' A
Target Variations 3' 5' T  G  C  A
Target Variations 3' 5' Transcript 001 Transcript 002 Transcript 003 T  G  C  A  A  A  A
Target Variations 3' 5' Transcript 001 Transcript 002 Transcript 003 Possible base-change ( 3 ) x transcript number ( 3 )  = variation number  ( 9 )  T  G  C  A  A  A  A
Variation Impact Variation
Variation Impact Variation Disease db
Variation Impact Variation SNP Disease db
Variation Impact Variation SNP Risk evaluation Rescue-ESE FAS-ESS Disease db
Risk Evaluation Tabor HK, Risch NJ, Myers RM:  Candidate-gene approaches for studying complex genetic traits: practical considerations.   Nature Reviews Genetics  2002,  3 (5):391-397 . 5 Risk types (8 subtypes) 5 Risk levels (1) Non-sense (2) Mis-sense (Non-conservative change) (3) Mis-sense (Protein domain abolition) (4) Mis-sense (splicing regulation) (5) Mis-sense (conservative change) (6) Splicing regulation (Protein domain abolition) (7) Splicing regulation (8) Sense ,[object Object],[object Object],[object Object],[object Object],[object Object]
Risk Evaluation Tabor HK, Risch NJ, Myers RM: Candidate-gene approaches for studying complex genetic traits: practical considerations.  Nature Reviews Genetics  2002, 3(5):391-397 .
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Rescue-ESE FAS-ESS
Risk Evaluation 5 Risk types (8 subtypes) 5 Risk levels (1) Non-sense (2) Mis-sense (Non-conservative change) (3) Mis-sense (Protein domain abolition) (4) Mis-sense (splicing regulation) (5) Mis-sense (conservative change) (6) Splicing regulation (Protein domain abolition) (7) Splicing regulation (8) Sense ,[object Object],[object Object],[object Object],[object Object],[object Object]
Risk Evaluation Workflow
Data Summery ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
User Interface
User Interface
User Interface
User Interface 1. Search
User Interface 1. Search  2. Image
User Interface 1. Search  2. Image 3. Table
User Interface 1. Search  4. History 2. Image 3. Table
User Interface 1. Search  4. History 2. Image 3. Table 5. Filter
Search
Search ,[object Object],[object Object],[object Object],[object Object],[object Object]
Search
Advanced Search
Advanced Search
Advanced Search
Advanced Search
Advanced Search
Advanced Search
Image
Image
Image
Image 1. Genome View
Image 1. Genome View 2. Chromosome View
Image 1. Genome View 2. Chromosome View 3. Transcript View
Image
Image
Image
Image
Table
Table ,[object Object]
Table ,[object Object]
Table ,[object Object]
Table ,[object Object]
Details
Variant Details
Impact
Risk Evaluation
SNP
Disease
Risk Evaluation Flow
History
History
Filter
Filter
Filter
Live Demo http://vb.ngc.sinica.edu.tw/
Future
Future ,[object Object]
Future ,[object Object],[object Object],[object Object],[object Object],[object Object]
Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Conclusion ,[object Object],[object Object],[object Object],[object Object]
Acknowledgement 緣起:陳志成老師、所長實驗室 指導:姚文萱老師 支援: NGC, Biomedical IT 經費: NRPGM
Thanks for your attention! http://vb.ngc.sinica.edu.tw

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