Highlights from ASHG 2015

ASHG 2015 was everything we hoped it would be: interesting and inspiring scientific presentations and a place to reconnect with friends and customers. When we weren’t manning a busy booth, our team had a wonderful time soaking in the latest and greatest in human genetics.

Here is a recap of our scientific line up at the show:

Tuesday October 6, Dan Richards, PhD., VP of Biomedical Informatics, QIAGEN Bioinformatics, gave a presentation about “Genome-scale ACMG pathogenicity classification using comprehensive curated clinical evidence and data.”

Wednesday October 7, we hosted a workshop with two guest speakers: Yuval Itan from Rockefeller University and Ben Solomon from Inova.
Yuval Itan talked about “NGS Diagnostic Odyssey – From Bench to Beside: Join fellow investigators in an educational overview of how bioinformatic solutions transform NGS results into actionable hereditary disease insights”.
Ben Solomon gave a presentation on “Solving Diagnostic Odysseys in the Neonatal Intensive Care Unit Achieving Valuable Insight from a Single Cell Genome.”

And Thursday October 8 was the time for our three poster presentations:

  • An automatic end-to-end solution for disease-causing variant detection in rare and hereditary diseases with a high case solve rate and a much reduced false positive rate presented by Anika Joecker – see the poster
  • Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation presented by Dan Richards – see poster
  • Ingenuity Variant Analysis, Leveraging the Knowledge Base and HGMD®, achieves over 30x enrichment in biologically relevant variants from whole genome and exome sequence data from patients with rare disease presented by Sohela Shah – see the poster

How can our solutions help you?

The solutions featured in our speakers presentations may also further your NGS studies. Take a look here and get inspired:

Of course you’re also more than welcome to contact us for any questions you might have. Hope to see you next year in Vancouver – we’re already looking forward to it!