1. 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

2. 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 2

3. Clinical field and clinical lab 3 Clinical field - One of the active mutation data production field - Produce mutation data with clinical information Clinical lab - Usually no bioinformatician in clinical lab

4. LSDB construction system 4 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

5. Difference between COMUS and other systems 5 Validation and Annotation Mutation Detection Sequencing and base-calling Deposition Usage by researchers Other Systems COMUS COMUS is more convenient for user, especially clinician.

6. Analysis procedure of COMUS 6 Alignment ( BLAT ) Mutation Candidate Detection Deposition Base-calling ( Phred ) Annotation - Novelty - Conservation Score - Amino Acid Change AB1 FASTA Input Sequence

7. Input Interface 7 Choose input file type Begin analysis List of input files About 100 AB1 files can be analyzed simultaneously.

8. Analysis result (1) 8 Reference sequence of gene locus Input Sequence mRNA

9. Analysis result (2) 9 Mutation candidates

10. Mutation Deposition 10 In Database Choose Mutation And Submit Yes Unregistered No Registration By Curator

11. Application of COMUS 11 http://www.kohemgene.org Kohemgene : A Korean registry of hemophilia mutations

12. COMUS Website 12 1.Download COMUS Installer 2.Analyze DNA sequence http://www.comus.info

13. Advantage of COMUS 13 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