1 Dermatology 2006 SNU Dermatolory Lab

Bioinformatics for Genomic Medicine

2006 Dermatology Lab

Yoonkyung Kim

Term Project Proposal Presentation

2006. 06. 12

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Database :

Online Mendelian Inheritance in skin

with OMIM DB

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Introduction

Online Mendelian Inheritance in Man (OMIM)

OMIM is a continuously updated catalogue of human genes and

genetic disorders. OMIM focuses primarily on inherited, or heritable,

genetic diseases.

It is considered to be a phenotypic companion to the human genome

project. OMIM is based upon the text Mendelian Inheritance in Man,

authored and edited by Dr. Victor A. McKusick and a team of science writers

and editors at Johns Hopkins University and elsewhere.

Mendelian Inheritance in Man(MIM) is now in its 12th edition.

See McKusick, V.A.: Mendelian Inheritance in Man. 12th ed.,

Baltimore: Johns Hopkins University Press, 1998.

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Purpose

- Limitation of datas about skin genetic disorders in OMIM - the updated data in other databases is considerably insufficient. OMIK(Online Mendlian Inheritance in Korea) : information is simple and Page error

국립보건원 < 유전질환 DB> : late update

Korea Cytogenetic DB : page error

- All of the database is not up to date ( old )

- Databases include overlapped cytogenetic DB

- contents of the databases are insufficient for professional and accuracy

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Method

OMIM

Get id from html pages(/omimhtml) ( skin search )Method : python 2.4Searched results with skin : 2189

Raw data

Download the pages(/omimsubhtml) with id Method : python 2.4

html data

Extract the datas from downloaded pages Method : python 2.4

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extracted data

Method

insert datas (text file) to the data tableMethod : MS Access !! but except data if data is too large to insert to the table

Datatable

Make form for the table

form

Coding to add search function with visual basicMethod : MS Access (visual basic)

Skin DB

Method : MS Access

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Result

search

Title OMIM id

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Result

In the Searched data

If click the OMIMlink,

If click the Genelocus,

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Discussion

- Skin database can be used to search genetic disorders in skin.

- The information in this database is easier to see and understand through

visualization datas and picture informations than previous OMIM DB.

- DB is not linked to the web.

- But this skin DB have limitations.

Most part of the information in DB exist in OMIM DB.

Earning the pictures about genetic disorder is difficult.

( shortage of knowledge)