GenomeNL variation database

The first version of the GenomeNL database is online. Now researchers can already sneak peak the GoNL variant data to verify whether variants observed in their own sample are unique against 25 million SNPs observed in the panel of 500 parents. By April we expect this set to be updated with a high quality SNP set based on the full panel of 770 individuals (and their genotype frequencies) while the unique trio structure to filter false positives. Also we will include a collection of structural variations. The database will be enriched with an optimized search interface and reference annotations on each variant to disclose a wealth of new information, new insights, and possible applications the development of new treatments and diagnostic techniques. See http://application32.target.rug.nl/gonl

  • Posted: 2012-02-20 22:03
  • Author: mswertz
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