Next Generation Sequencing

The Genome Reference Consortium (GRC) has recently been formed. The goal of this group is as stated on their website “to correct the small number of regions in the reference that are currently misrepresented, to close as many remaining gaps as possible and to produce alternative assemblies of structurally variant loci when necessary“. GenomeWeb has a bit more background.

From the perspective on our company who designs assembly algorithms, this is of course exciting news. Reference assembly is evidently very dependent on the quality of the reference sequence/genome and any improvements on this side will make our lives easier. An open question is how to represent information such as structural variation? As of now, assembly is performed against a single reference sequence which is clearly too simple a format to describe complex structural variation. We will follow the work of the consortium closely, they have their work cut out for them, with all the new structural variation that is continuously being discovered in the human genome.