Talk at ASHG 2017 on MHC

On Thursday, October 19 at 11:00 a.m., join me at ASHG for a talk about de novo assembly applied to MHC/HLA. This work examines our current development version of Supernova(tm), the 10x Genomics de novo assembler, specifically in the MHC region. For the samples that we studied, MHC was in a single, phased scaffold. At the exon level, the peptide binding sites were correctly reconstructed, to base-level accuracy, for 35 of 36 genes x subjects. Most whole-genes were reconstructed perfectly, with some genes having a small number of putative subtitutions and indels.

This is definitely a work-in-progress, but we’re looking toward a future when we can routinely assemble, de novo, the entire MHC region.