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This is an active area of work for the InSiGHT interpretation committee, which is using information from the InSiGHT database and published literature to assign pathogenicity to each variant.
There is no difference for the InSiGHT database and hence this additional data is not shown for the InSiGHT database.
The first version of the Variome Annotation Schema was constructed by analysing the database schema for the existing InSiGHT mutation database; further categories and relations were added based on discussions with the InSiGHT database curator, who suggested additional useful information to capture.
We appreciate the assistance of John-Paul Plazzer, curator of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) Database.
Examples of each of these include the Human Variome Project Australian Node (www.hvpaustralia.org.au) and InSiGHT database (InSiGHT, www.insight-group.org).
The 99 missense mutations analyzed were annotated in the InSIGHT database accessed in March 2003.
From the InSiGHT database, there are only eight articles with tables, of which four contain mutations.
In the InSiGHT database this happens only with the PMID 12373605.
The InSiGHT database uses the LOVD (Leiden Open Variation Database) platform (15).
We accessed the InSiGHT database on 2 January 2013 to establish our data set.
We also explore the relevance of the schema to the InSiGHT database curation process.
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