THE FUTURE OF GENOMICS & INFORMATICS IN THE NEXT 5 YEARS

Tina Graves-Lindsay, Leader of the Reference Genomes Group at the McDonnell Genome Institute (MGI) at Washington University St. Louis, kicked off the session talking about the research involved in achieving the best human whole genome assembly. As a member of the Genome Reference Consortium, Tina’s team has been working to improve the current reference, GRCh38, and fixing a few genes that are not optimally represented for all individuals or ancestries.

The sequence plan starts with generating 60x coverage of PacBio long read data for a de novo assembly. From there, MGI incorporates BioNano or Dovetail data to create scaffolds that in some cases nearly cover entire chromosome arms. Since MGI is targeting difficult to assemble regions of the genome, they sequence bacterial artificial chromosomes (BACs) to fill the targeted regions and then incorporate all this data together to generate a very high quality whole genome assembly labeled the “Gold Genome”.

http://blog.dnanexus.com/2015-10-15-post-ashg-the-future-of-genomics-informatics-in-the-next-5-years/