Getting Ready for ASHG: Variants, Variants Everywhere

The QIAGEN Bioinformatics crew is eager for the upcoming annual meeting of the American Society of Human Genetics, taking place this year in San Diego from October 18-22. ASHG is something like the Super Bowl of genetics research, and each year we attend to see the terrific science being presented and catch up with thousands of our colleagues.

The 2014 conference continues a trend we’ve seen in the past several years at ASHG, and that’s the rapid uptake of NGS data throughout the genetics community. The program is packed with population studies, cancer studies, and other massive-scale hunts for causal variants driving biological change. That means even small genetics labs are now dealing with big data — and the analytical problems associated with it.

The conference will kick off with a presidential address that really hits home for us: Cynthia Casson Morton from Brigham and Women’s Hospital and Harvard Medical School is slated to speak about challenges in variant interpretation and how best to deliver genetic information to patients. “We find ourselves engaged in frequent discourse about how to validate the function of variants and what results should be communicated to individuals,” she wrote in her abstract. As the developers of Ingenuity Variant Analysis, and our new web application Ingenuity Clinical Decision Support now in early customer access, we find ourselves participating in this dialogue on a daily basis. These are hard questions to answer. However, armed with the collective wisdom of peer-reviewed literature captured in a computable form using Ingenuity Knowledge Base, we know our customers are far better prepared to take on these difficult questions.


We’re pleased to report that Vivien Sheehan, an assistant professor of pediatrics at Texas Children’s Hospital and winner of a grant to use Ingenuity Variant Analysis in 2012, will be presenting some of her remarkable work at ASHG. Look for her on Tuesday, October 21, in the 4:30 pm–6:30 pm session entitled “From Association to Function in Complex Traits.”


There will be several posters from customers featuring data analysis incorporating Ingenuity Variant Analysis or Ingenuity Pathway Analysis. Check out the poster sessions on Sunday, Monday, and Tuesday to see them (we recommend searching for “Ingenuity” or “QIAGEN” in ASHG’s abstract finder to locate them).

We also recommend checking out these posters from QIAGEN Bioinformatics:

  • Sunday, October 19, 5:00 pm – 6:00 pm
    Poster #1578S
    Comparing variant filters from transcriptome and exome sequencing data
  • Tuesday, October 21, 2:00 pm – 3:00 pm
    Poster #1391T
    Identification of differentially expressed genes and somatic mutations in esophageal adenocarinoma cancer patients


In addition, QIAGEN will be hosting an educational workshop on Tuesday from 12:30 pm – 1:45 pm in room 11A of the convention center. The event, “Your Best Data: Teaming QIAGEN Chemistry & Informatics to Drive Samples to Insight,” will include customer data as well as information about the sample-to-insight workflow.


iPad raffle 1Finally, if you are at the conference, we hope to meet you! Please swing by booth #936 to get to know the QIAGEN Bioinformatics team and learn more about how our tools can accelerate your research and help you find your next hypothesis to test. We’ll be raffling off two iPad Air units on Monday evening; anyone who watches a demo at our booth will be entered to win.