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:
- Compliment your variant discovery with over 7,000 ethnically and phenotypically diverse genome samples
- Reveal the mutational spectrum of an inherited disease, or rapidly determine if a mutation is novel or previously described in the published literature
- Rapidly analyze your NGS raw sequencing files with high accuracy using easy-to-use end-to-end workflows
- Scale your clinical decision support in oncology with QIAGEN® Clinical Insight
- Join the Allele Frequency Community and annotate your NGS samples with allele frequency information
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!