Patent ID: 9600627
Date: 2017-03-21
CPC Classifications: G16B

Claim:
1. A computer-based genomic annotation system, comprising: non-transitory memory configured to store instructions, and at least one hardware processor coupled with the memory, the hardware processor configured to: receive a variant file, the variant file being populated with a plurality of genomic DNA variants relative to a reference genomic DNA sequence, the plurality of variants comprising at least a reported first variant, a novel second variant, and a novel third variant that have been found in the genome of a subject; generate an annotation file, the annotation file defining a plurality of annotation categories corresponding to selected characteristics of genomic variants; generate a plurality of annotations for the first variant, wherein generating the plurality of annotations for the first variant comprises: generate a plurality of annotations for the second variant, wherein generating the plurality of annotations for the second variant comprises: generate a plurality of annotations for the third variant, wherein generating the plurality of annotations for the third variant comprises: populate the annotation file with the plurality of generated annotations; and deliver variant specific information about the plurality of genomic DNA variants using the populated annotation file.