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Due to advances in next generation sequencing technology [25], large amounts of sequence variant data are now becoming available, particularly focused on the discovery of rare pathogenic variants.
Variant data are also available for NA19129 from the 1,000 Genomes Project.
This suggests that variant data are very useful especially as a complementary dataset to the others.
In TrioVis, the variant data are organized by grouping each variant based on the laws of Mendelian inheritance.
This shows strong evidence that the genetic variant data are highly effective for predicting cancer related phenotype terms.
In the Inheritance subontology it was noticeable that the variant data are more effective for the categories with fewer annotations compared to the literature features (data not shown).
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Gene transcript and variant data were collected and mined for candidate STEPs in motif regions.
Variant data were further annotated by Annovar to provide functional annotation of variants.
Finally, rare variant data were calculated for each of the seven protein domains independently.
Rare variant data were calculated for each of the seven protein domains.
The variant data is found in the ModSNP database (Yip et al., 2004).
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