Pierre Lindenbaum writes:
From EVS: “The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by pioneering the application of next-generation sequencing of the protein coding regions of the human genome across diverse, richly-phenotyped populations and to share these datasets and findings with the scientific community to extend and enrich the diagnosis, management and treatment of heart, lung and blood disorders.”
The NHLBI Exome Sequencing Project provides a download area but I wanted to build a local database for the richer XML data returned by their Web Services (previously described here on my blog ). The following java program sends some XML/SOAP requests to the EVS server for each chromosome using a genomic window of 150000 bp and parses the XML response.
If you are interested in tools that will assist you in populating a genome-centric topic map, Pierre’s blog is an important one to follow.