Missed ASHG? Not to worry. We’ve compiled the highlights for you!
1. Pre-show sequencing talk
Watch on-demand: The importance of coverage uniformity in exome sequencing
- Speaker: Peter Hahn, Ph.D., R&D, QIAGEN
What it’s about: Whole exome sequencing has had routine clinical utility for a decade, but different platforms provide varying levels of sequencing coverage and uniformity. How does this affect variant calling?
2. Late-breaking educational session
Altered microRNA expression in COVID-19 patients accurately identifies SARS-CoV-2 infection
Learn more about miRNA sequencing
- Speaker: Ryan Farr, Ph.D. Host Response Team, Health and Biosecurity (H&B) at the Australian Centre for Disease Preparedness (ACDP), CSIRO, Australia
What it’s about: By examining the host response to SARS-CoV-2 infection, we can achieve valuable insights into viral pathogenesis and COVID-19 progression. This study demonstrates that SARS-CoV-2 infection results in a significant host miRNA response that aligns with our current knowledge of COVID-19 induced inflammation. By using a multivariate machine learning approach, researchers have developed a robust miRNA biomarker signature of COVID-19. This signature could complement existing diagnostic tests by providing a new approach to detecting cases that might otherwise be missed.
3. Live, interactive co-lab sessions
Atila’s iSAFE 5-color Digital PCR Assay for Non-Invasive Prenatal Testing (NIPT) on the QIAGEN QIAcuity Digital PCR Platform
Learn more about digital PCR and QIAcuity
- Speaker: Zhijie Yang and Youxiang Wang, Atila BioSystems, Inc, USA
What it’s about: A digital PCR-based NIPT assay offers the simplest workflow (no library preparation needed), the fastest turnaround time (about 3 hours) and the most affordable cost. We report the first 5-color NIPT assay on the QIAcuity platform in a single reaction to simultaneously quantify chromosomes 21, 18, 13, 1, the fetal fraction, and determine the gender of the fetus.
Accelerating precision oncology programs with genomically annotated and clinically characterized biospecimens
Learn more about multimodal sequencing
Learn more about SpecimenSeq from Discovery Life Sciences
- Speaker: Shawn Levy, Ph.D., Genomics, Discovery Life Sciences, USA
What it’s about: Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. Discovery's recently launched SpecimenSeq product line makes this challenge easier for targeted oncology and liquid biopsy developers by delivering access to ethically collected biospecimen sets that are annotated with genomic and clinical characteristics.
4. Lightning talks
A platform for discovering immunogenic neopeptide junctions from RNA fusions for developing vaccines for the treatment and prevention of cancer
Learn more about Dr. Gunaratne’s work
- Speaker: Preethi Gunaratne, Ph.D., Department of Biology & Biochemistry, University of Houston, USA
What it’s about: Unique sequences at the junctions of fusion proteins translated from chimeric RNAs form neoantigen peptide regions that expand the potential targets for therapeutic vaccines. This talk presents a platform that provides end-to-end service for discovering validated actionable fusions that can provide biomarkers for a selection of targeted therapies in a precision medicine format and reagents for developing tumor vaccines.
5. Happy hour trivia winners
After a long virtual day of talks, we had a fun night of trivia! Check out the winners:
First place: Agnes with 17396 points
Second Places: Rhys with 16917 points
Third Place: Jacksund with 16785 points
See if you can answer out hardest question (without cheating!). Only 6% of participants got it right: