126 5 Survey of Ontologies in Bioinformatics
XML format does not use a DTD, and most of the information is encoded as
FASTA text within element content.
The SNP Consortium snp.cshl.org
The SNP Consortium (TSC) was established in 1999 as a collaboration of sev-
eral companies and institutions to produce a public resource of SNPs in the
human genome (Thorisson and Stein 2003). The initial goal was to discover
300,000 SNPs in 2 years, but the final results exceeded this. For example, at
the end of 2001, as many as 1.4 million SNPs had been released into the pub-
lic domain (ISMWG 2001). The database now contains over 1.8 million SNPs.
The data are stored in a relational database and are available in tab-delimited
flat files.
International HapMap Project http://www.hapmap.org
The International HapMap project is charting the haplotype structure across
the entire human genome in major human ethnic groups (IHMC 2003). The
haplotype data of this project are available in XML. The format is specified
using XSD inwww.hapmap.org/xml-schema/2003-11-04/hapmap.xsd.