Learning Lounge
Friday 03/15, 10:30 AM – 11:00 AM
Title: BadgerSeq: Developing a decentralized model for ultra-rapid long-read whole genome sequencing
Rapid genome sequencing for the diagnosis of critically ill infants currently has significant gaps: Access – short-read sequencing technology limits rapid genome sequencing to a small number of very high throughput laboratories nationwide; Reach – short-read sequencing cannot detect many clinically important genomic variants; and Speed – the time from clinical presentation to initial results typically exceeds 7 days, after numerous critical clinical decisions have already been made.
To address these challenges we are developing Badger-Seq, a decentralized model for 72 hour genomic sequencing that combines artificial intelligence-assisted selection of patients and long-read Nanopore sequencing with automated genome interpretation and reporting. Early data from retrospective and prospective cases run through this pipeline will be shared in this presentation.