Transcript term project

Bioinformatics for Genomic Medicine
Term Project Proposal
Presentation
2006. 06. 12
Yoonkyung Kim
2006 Dermatology Lab
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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
Database :
Online Mendelian Inheritance in skin
with OMIM DB
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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
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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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
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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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
Method
OMIM
Get id from html pages(/omimhtml) ( skin search )
Method : python 2.4
Searched 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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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
Method
extracted
data
insert datas (text file) to the data table
Method : MS Access
!! but except data if data is too large to insert to the table
Data
table
Make form for the table
Method : MS Access
form
Coding to add search function with visual basic
Method : MS Access (visual basic)
Skin DB
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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
Result
search
Title
OMIM id
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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
Result
In the
Searched data
If click the OMIMlink,
If click the Genelocus,
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Dermatology
2006 SNU Dermatolory Lab
Term Project Proposal Presentation
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)
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Dermatology
2006 SNU Dermatolory Lab