NDLI: Integrating Human Genome Variation Data: An Information System Approach

Content Provider	IEEE Xplore Digital Library
Author	Martin, A. Celma, M.
Copyright Year	2011
Abstract	The goal of this work is to design and develop an Information System that integrates human genome variation data currently scattered in different repositories. The continuous and increasing interest generated around the variations knowledge, makes the study of this research topic from an Information System point of view extremely attractive. The system has been developed following a conceptual-model based methodology. The conceptual model represents, in a formal way, genome variation knowledge. The definition and categorization of variations is unified using this conceptualization. Once this conceptual model is established, it is implemented in a database (Human Genome Data Base, HGDB). The database acts as a unified variation repository of integrated information that will allow biologists to perform efficient recovery tasks. Lastly, a loading module has been implemented, using an extraction-transformation-load (ETL) strategy, in order to integrate data from three relevant variation repositories: HapMap, Ensembl and Cosmic. An exploitation module for final users is also provided.
Starting Page	65
Ending Page	69
File Size	379464
Page Count	5
File Format	PDF
ISBN	9781457709821
ISSN	15294188
DOI	10.1109/DEXA.2011.45
Language	English
Publisher	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Publisher Date	2011-08-29
Publisher Place	France
Access Restriction	Subscribed
Rights Holder	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Subject Keyword	Bioinformatics Genomics Databases Humans Information systems Biological cells Biological system modeling Variations Conceptual Modelling Database Human Information Systems
Content Type	Text
Resource Type	Article

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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