Read the latest news and stories from the Golden Helix team, covering how-tos, announcements, product releases, and updates.
Screen Shot 2015-05-22 at 15.14.25
One variant in the CEU Trio overlaps three transcripts in the gene HK1. Here the clinically relevant transcript is transcript where the variant is in an exon. A nice effect of using the longest cds region as a heuristic is that the clinically relevant transcript is likely to be the one in which the variant overlaps a coding exon.