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COMUS : C linician- O riented locus-specific MU tation detection and deposition S ystem

>>> 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.

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COMUS : C linician- O riented locus-specific MU tation detection and deposition S ystem

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  1. >>> KRIBB Korea Research Institute of Bioscience and Biotechnology 8th InCoB September7-11 2009 in Singapore COMUS : Clinician-Oriented locus-specific MUtation detection and deposition System Korean BioInformation Center (KOBIC) Sungwoong Jho >>> 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

  3. 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 3

  4. 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

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

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

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

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

  9. Analysis result (2) Mutation candidates 9

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

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

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

  13. Advantage of COMUS • 1. Users who are not expert in bioinformatics tool can submit their mutation to LSDB easily • Reduce the time-consuming bottleneck in curation step, because curation work is conducted in mutation detection and selection step

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