COMUS : Clinician-Oriented locus-specific MUtation detection and deposition System Korean BioInformation Center (KOBIC) Sungwoong Jho 8 th InCoB September 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 LSDBs listed in HGVS (Human Genome Variation Society) website - HAMSTeRS is an LSDB for F8 gene associated to haemophilia 2

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

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

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.

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

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

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

Analysis result (2) 9 Mutation candidates

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

Application of COMUS 11 Kohemgene : A Korean registry of hemophilia mutations

COMUS Website 12 1.Download COMUS Installer 2.Analyze DNA sequence

Advantage of COMUS 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