The Variant Annotation Integrator (VAI) is a research tool for associating annotations from the UCSC database with your uploaded set of variant calls. It uses gene annotations to predict functional effects of variants on transcripts. For example, a variant might be located in the coding sequence of one transcript, but in the intron of an alternatively spliced transcript of the same gene; the VAI will return the predicted functional effect for each transcript. The VAI can optionally add several other types of relevant information: the dbSNP identifier if the variant is found in dbSNP, protein damage scores for missense variants from the Database of Non-synonymous Functional Predictions (dbNSFP), and conservation scores computed from multi-species alignments. The VAI can optionally filter results to retain only specific functional effect categories, variant properties and multi-species conservation status.

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Monday, May 14, 2018 - 14:15