Back from another exciting ASHG conference. It was the highest attendance rate to date and the weather was predictably beautiful in San Diego! There were many great talks showcasing the latest research efforts ranging from sensitive subjects (large scale GWAS on sexual orientation) to inspiring stories. One of the highlights was a talk on the potential of helping those with ultra-rare disease who can’t be helped via traditional methods. Dr. Timothy Yu from Boston Children’s Hospital spoke about a young girl with fatal CLN7 Batten disease which has no treatment. He and his team rapidly developed a novel antisense oligonucleotide drug customized to her mutation and administered it under an Individual Patient Expanded Access IND. If you missed the talk, you can read about this incredible story as reported by STAT. It’s always great to see that our collective efforts in various studies across the field of genetics has such an impact on people’s lives!
There were also many talks and posters on copy number analysis particularly on estimation of copy number from NGS data. There is a greater movement towards the consolidated and simpler single assay model. Presentations ranged from new algorithms to applications in research and diagnosing unsolved cases with CN estimation from sequencing data.
Our own breakfast event was focused on customer presentations on integrated analysis and interpretation using NGS data to derive copy number. Customers showed their work on deriving copy number from various types of NGS data (whole-genome, whole-exome, and targeted NGS panels) showing how versatile the MSR algorithm is in NxClinical with the ability to derive copy number across these varying platforms. Below was the lineup of speakers. In case you missed it - we recorded the talk so you can still catch all of the action.
Dr. Carol Saunders, Clinical Director, Children's Mercy Hospital, Implementation of copy number variant detection from existing exome and genome samples.
Dr. Jenny Ji, Assistant Director, Children's Hospital Los Angeles, Exome reanalysis and integrated SNV and AOH detection in a patient with a bone marrow failure syndrome.
Dr. Sarah Murray, Director, University of California San Diego, Integrated analysis and clinical interpretation of CNV, LOH, and Sequence Variants of FFPE cancer samples profiled on a solid tumor NGS panel.
We are looking forward to Houston next year where we can showcase NxClinical 5.0 which is coming in the next few months…