For more than six decades, the American Society of Human Genetics Annual Meeting has offered the latest news and views about all areas of human genetics. This year, in its 65th iteration, ASHG promises to uphold that tradition: it will take place from October 6-10 at the Baltimore Convention Center, where more than 6,500 attendees from around the globe will learn about and discuss cutting-edge research in the field. For QIAGEN Bioinformatics, the conference offers a chance to focus on hereditary diseases, including cancer, and our various platforms, tools, and partnerships that allow researchers to further their work, including hereditary and rare disease analysis and interpretation in one solution with Biomedical Genomics Workbench and Variant Analysis with HGMD®, Inova Genomes, QIAGEN® Clinical Insight (hereditary cancer application) and collaborative enterprises like the Allele Frequency Community.
Listed as one of the best conferences to attend by a GenomeWeb survey, ASHG is well known for its broad scope and insightful content. The 2015 agenda offers a number of intriguing sessions — from symposia and workshops to keynotes and poster sessions — with topics including the genetics of disease, science communication, and policy updates, among many others. In addition to its abundant opportunities for scientists to network and learn through interactive sessions, ASHG features a large exhibition space, where more than 3,000 posters will be on display and more than 200 companies will provide updates on their products and services.
Several sessions stand out on the ASHG agenda this year. Kicking off the meeting, ASHG President Neil Risch will address how, through research and clinical practice, genetics is poised to make a significant impact on society and technology. Immediately following that session, Risch will host a symposium about the progress of genomics and electronic health records with four thought leaders in this space. In addition, several sessions will drill down into the genetics of disease, which is helping to move the needle on more effective medical treatment.
We’re particularly pleased to see such a focus on NGS analysis and interpretation — several of the scientific sessions will report on new methods as well as case studies of how high-quality analysis and interpretation made a difference. Many of the sessions also touch on the importance of analyzing more diverse populations. As co-founders of the Allele Frequency Community, we heartily support efforts to expand our public genetic databases to reflect variation seen in even very small ethnic populations.
We also have a number of QIAGEN Bioinformatics executives participating in educational sessions, including a 10-minute presentation, a 1.5-hour workshop, and three poster presentations:
• October 6, 10:20AM-10:30 AM:
- Dan Richards, PhD., VP of Biomedical Informatics, QIAGEN Bioinformatics, HGVS (Human Genome Variation Society) Chesapeake Room, Holiday Inn Baltimore Inner Harbor. Genome-scale ACMG pathogenicity classification using comprehensive curated clinical evidence and data.
• October 7, 1:00PM-2:30 PM:
- 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, a presentation by Yuval Itan of Rockefeller University.
- Solving Diagnostic Odysseys in the Neonatal Intensive Care Unit Achieving Valuable Insight from a Single Cell Genome, a presentation by Ben Solomon, MD, Inova.
This event will be held in room Loch Raven, 2nd floor, Sheraton Inner Harbor Hotel.
• October 8, 11:00 AM – 1:00 PM: 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. Anika Joecker, 1610T, Thursday, Oct. 8 Exhibit Hall, Level 1, 12:00 pm – 1:00 pm.
- Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation. Dan Richards, 1592T, Thursday, Oct. 8, Exhibit Hall, Level 1,12:00 pm-1:00 pm.
- 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. Sohela Shah, 1913T, Thursday, Oct. 8 Exhibit Hall, Level 1, 11:00 am – 12:00 pm.
If you’d like one-on-one time, QIAGEN Bioinformatics will be at booth #1622. We will be demonstrating Ingenuity® Variant Analysis™, Biomedical Genomics Workbench, HGMD, and Inova Genomes — and we’d be happy to answer your questions.
Also stop by the QIAGEN booth #1621 across the aisle to learn about sample to insight solutions for exosomes, FFPE, circulating nucleic acids and single cells.
In the meantime, please visit our events page for more information on everything we’re doing before, during, and after ASHG.
Baltimore, here we come!