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ASHI 2016: Long-read sequencing proves effective for full-length HLA gene sequencing

Thursday, November 10, 2016

Last month we attended the annual meeting of the American Society for Histocompatibility and Immunogenetics (ASHI), where we were impressed to see the great progress in scientific research around transplantation, immunogenetics, HLA, vaccines and much more.

There were an increasing number of presentations and posters showcasing new approaches to HLA sequencing. For the last few years, early protocols with NGS were focused purely on exon sequencing. Steady improvement in sequencing technologies has led to a new focus on full-length allele sequencing of all relevant MHC genes. It was great to see leading labs share their advice on the best methods for characterizing the ultra-complex HLA region and we look forward to seeing how a significantly expanded understanding of natural genetic variation will ultimately improve patient care.

We noticed impactful presentations from PacBio users generating high-quality, fully phased HLA alleles without imputation. HistoGenetics CEO Nezih Cereb reported using SMRT Sequencing to analyze 60,000 samples for the National Marrow Donor Program, that operates the Be the Match Registry. During his talk he also called upon the HLA community for making full-length, phased sequences a standard for all HLA typing. In other platform and poster presentations, scientists spoke about deploying SMRT Sequencing for KIR gene sequencing, validating SNP linkages with HLA types, generating full-length HLA gene references for submission to a public database, and novel or discrepant allele sequencing.

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