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FESD: a Functional Element SNPs Database in human.

Hyo Jin Kang¹, Kyoung Oak Choi, Byung-Dong Kim

¹National Genome Information Center, 52 Eoeun-dong, Yuseong-gu, Daejeon 305-333, Korea.

Nucleic Acids Research

|December 21, 2004

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The Functional Element SNPs Database (FESD) categorizes human genetic variations, including single nucleotide polymorphisms (SNPs), within specific functional elements. This resource aids researchers in identifying mutations linked to complex diseases.

Area of Science:

Genomics
Bioinformatics

Background:

Single nucleotide polymorphisms (SNPs) are crucial genetic markers.
Understanding SNP locations within functional genomic regions is vital for disease association studies.

Purpose of the Study:

To develop a comprehensive database (FESD) categorizing SNPs within human genic functional elements.
To provide a web interface for accessing SNP data and flanking sequences for genotyping.

Main Methods:

Categorization of human genic regions into 10 functional elements.
Assignment of known single nucleotide polymorphisms (SNPs) to their respective functional elements.
Development of a web interface for data retrieval and analysis.

Main Results:

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Creation of the Functional Element SNPs Database (FESD).

Detailed categorization of SNPs within promoter regions, CpG islands, UTRs, splice sites, coding exons, introns, and other key elements.

A functional web interface enabling users to query SNPs and obtain flanking sequences.

Conclusions:

The FESD provides a valuable resource for researchers studying the role of SNPs in human diseases.
Facilitates genotyping experiments to identify disease-associated mutations.
Supports research into common and polygenic diseases through accessible SNP data.