PEDIATRIC RARE DISEASE GENOMES AND THE ROLE OF LONG-READ SEQUENCING

Join us for this live webinar to hear how Children’s Mercy Kansas City successfully analyzed samples from 960 families with suspected genetic disorders and prior negative genetic tests. Using HiFi long-read sequencing, the research team was able to obtain more data than with previous technology. They found that HiFi sequencing yielded an increased explanation rate with more than four-fold rare coding structural variants than short-read sequencing.

Attendees will learn about:

  • The Children’s Mercy Kansas City study design and its key findings
  • Why the research team chose to use HiFi long-read sequencing and what evidence gap they wanted it to address
  • Considerations for implementing HiFi long-read sequencing into existing rare disease research studies

March 30th | 5:30 pm