ASHG 2016: Structural Variants, Mega Databases, and the Best-Ever Human Genome

The Sage Science team enjoyed our trip across the border to Canada for the annual meeting of the American Society of Human Genetics this month. Vancouver was practically teeming with genome scientists!

Many presentations this year featured results generated by mining the slew of publicly accessible sequence databases that have come online in recent years, with plenty of exciting new correlations between genetic conditions and markers. Cancer was a commonly studied disease, with new associations that could really pay off for patients down the line if they can be validated for clinical utility.

We also saw that these databases are growing quickly. The Broad Institute announced a new version of the ExAC database, called gnomAD, which essentially doubles the number of exomes and genomes from which it catalogs genetic variants. The conjunction of these massive genomic resources with big data analysis tools stands to revolutionize the speed at which discovery moves in human genetics.

In recent years, we’ve seen that ASHG presenters are going beyond SNPs to interrogate large variants, and this year continued the trend. Structural variants got more airtime than ever, with technologies such as PacBio, BioNano Genomics, 10x, and more making it easier for researchers to access this complex information. We’re encouraged that the community is embracing these tools to analyze extremely large fragments of DNA in order to uncover entirely new genetic mechanisms that could contribute significantly to disease.

A real highlight of the meeting was Macrogen’s presentation of the recently published Korean reference genome, which used PacBio, BioNano, and other technologies to create the most complete human assembly ever. Several whole chromosome arms were assembled into individual contigs, a stunning feat. The team also reminded ASHG attendees that two-thirds of the world’s population is of Asian descent, underscoring the need to invest in more genome resources for Asian individuals.

Many thanks to all the attendees who took time out of a busy conference to stop by our booth and chat with the Sage team. We were honored by all the attention that our new SageHLS instrument got in its first outing, and look forward to seeing how it enables better science when it hits lab benches soon.

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