Transcript PEIMAP : The Protein Experimental Interactome database

>>> KRIBB Korea Research Institute of Bioscience and Biotechnology
8th InCoB September 7-11 2009 in Singapore
COMUS
: Clinician-Oriented locus-specific MUtation detection and deposition System
Korean BioInformation Center (KOBIC)
Sungwoong Jho
>>> 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
• Clinical field
- One of the active mutation data production field
- Produce mutation data with clinical information
• Clinical lab
- Usually no bioinformatician in clinical lab
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LSDB construction system
• 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
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Difference between COMUS and other systems
COMUS
Other Systems
Sequencing
and
base-calling
Mutation
Detection
Validation
and
Annotation
Deposition
Usage
by
researchers
COMUS is more convenient for user, especially clinician.
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Analysis procedure of COMUS
Input
Sequence
Alignment
( BLAT )
FASTA
AB1
Mutation
Candidate
Detection
Base-calling
( Phred )
Deposition
Annotation
- Novelty
- Conservation Score
- Amino Acid Change
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Input Interface
Choose input file type
Begin analysis
List of input files
• About 100 AB1 files can be analyzed simultaneously.
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Analysis result (1)
Reference sequence of gene locus
Input Sequence
mRNA
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Analysis result (2)
Mutation candidates
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Mutation Deposition
Choose
Mutation
And
Submit
Registration
By
Curator
Yes
In
Database
No
Unregistered
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Application of COMUS
• Kohemgene : A Korean registry of hemophilia mutations
http://www.kohemgene.org
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COMUS Website
1. Download COMUS Installer
2. Analyze DNA sequence
http://www.comus.info
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Advantage of COMUS
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
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