COMUS : C linician- O riented locus-specific MU tation detection and deposition S ystem
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COMUS : Clinician-Oriented locus-specific MUtation detection and deposition System Korean BioInformation Center (KOBIC) Sungwoong Jho 8 th InCoB September 7-11 2009 in Singapore >>> KRIBB Korea Research Institute of Bioscience and Biotechnology >>> KOBIC Korean BioInformation Center
description
>>> KRIBB Korea Research Institute of Bioscience and Biotechnology. 8 th InCoB September 7-11 2009 in Singapore. COMUS : C linician- O riented locus-specific MU tation detection and deposition S ystem. Korean BioInformation Center (KOBIC) Sungwoong Jho. - PowerPoint PPT Presentation
Transcript of COMUS : C linician- O riented locus-specific MU tation detection and deposition S ystem
COMUS : Clinician-Oriented locus-specific MUtation detection and deposition System
Korean BioInformation Center (KOBIC) Sungwoong Jho
8th InCoB September 7-11 2009 in Singapore
>>> KRIBB Korea Research Institute of Bioscience and Biotechnology
>>> KOBIC Korean BioInformation Center
Mutation and LSDBs
• Mutation- Change of nucleotide sequence- Small scale mutation : point mutation, insertion, deletion- Large scale mutation : gene duplication, chromosomal translocation, etc- In rare disease, mutations are closely related to the disease
• LSDB (Locus-Specific DataBase)- Contains mutation and other information of small part of genomic region- 435 LSDBs listed in HGVS (Human Genome Variation Society) website- HAMSTeRS is an LSDB for F8 gene associated to haemophilia
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Clinical field and clinical lab
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• Clinical field- One of the active mutation data production field
- Produce mutation data with clinical information
• Clinical lab- Usually no bioinformatician in clinical lab
LSDB construction system
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• Previously developed system- UMD, LOVD, MUTbase- Support mutation deposition- Support collection mutation data from published articles
• COMUS- Support mutation detection and deposition- Support collection mutation data from sequence data
Difference between COMUS and other systems
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Validation
andAnnotatio
n
Mutation Detectio
n
Sequencingand
base-calling
Depositio
n
Usageby
researchers
Other Systems
COMUS
COMUS is more convenient for user, especially clinician.
Analysis procedure of COMUS
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Alignment
( BLAT )
Mutation
Candidate
Detection
Deposition
Base-calling
( Phred )
Annotation- Novelty- Conservation Score- Amino Acid Change
AB1
FASTA
InputSequence
Input Interface
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Choose input file type
Begin analysis
List of input files
• About 100 AB1 files can be analyzed simultaneously.
Analysis result (1)
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Reference sequence of gene locus
Input Sequence
mRNA
Analysis result (2)
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Mutation candidates
Mutation Deposition
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In Databas
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Choose Mutation
AndSubmit
Yes
Unregistered
No
RegistrationBy
Curator
Application of COMUS
11http://www.kohemgene.org
• Kohemgene : A Korean registry of hemophilia mutations
COMUS Website
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1. Download COMUS Installer2. Analyze DNA sequence
http://www.comus.info
Advantage of COMUS
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1. Users who are not expert in bioinformatics tool can submit their mutation to LSDB easily
2. Reduce the time-consuming bottleneck in curation step, because curation work is conducted in mutation detection and selection step
