The potential of artificial intelligence (AI) in clinical genomics is causing some diagnostic labs to consider how the technology can improve time-consuming components of their workflow—especially variant curation. The primary bottleneck to achieving accurate and comprehensive variant curation is the need to manually locate, assess, annotate and document evidence from scientific and clinical literature. While AI is a logical solution to these challenges, can diagnostic labs trust it?

In this webinar, we examine a new study by Stanford University that analyzes the accuracy, consistency, and comprehensiveness of automated and manual germline variant curation. The study compares the quality of data from Stanford’s Automatic VAriant evidence DAtabase (AVADA) to the Human Gene Mutation Database (HGMD), an expert-curated resource for human inherited disease mutations.

By attending this webinar, you will:

  • Analyze a series of use-cases comparing the performance of AI-driven variant curation to manual approaches
  • Receive a virtual demonstration of how HGMD presents mutation data, including how the database provides genomic coordinates, Human Genome Variation Society (HGVS) nomenclatures for variants, citations from key publications, and where a variant is described in a paper or supplemental text
  • Learn how HGMD simplifies literature review and supports CNV interpretation
  • Receive a complimentary 5-day trial of HGMD Professional
About the speaker
Araceli Cuellar, PhD, Field Application Scientist
QIAGEN Digital Insights (QDI)
Araceli joined QIAGEN in 2020 and serves as one of our outstanding Field Applications Scientists. Araceli received a Ph.D. in Integrative Pathobiology from the University of California Davis, where she also completed her postdoctoral training in pediatric rare diseases. Prior to joining QIAGEN, she managed a molecular genetics lab that focused on identifying and analyzing genetic variants associated with a rare pediatric skull condition.
Date of recording:Wednesday, April 5, 2023
Duration:60 minutes
Human Genetics
Inherited Disorders
Next Generation Sequencing