Title: Implementing WGS on infants admitted to the CICU at Intermountain Primary Children’s Hospital in collaboration with the Broad Clinical Labs and Fabric Genomics
This presentation investigates the implementation of Whole Genome Sequencing (WGS) into the clinical process for infants undergoing surgical repair of Congenital Heart Defects (CHD) within a pediatric cardiac intensive care unit (CICU). The discussion encompasses historical considerations in past testing protocols, the rationale for employing WGS, the procedural steps to integrate it into a hospital setting, and an in-depth exploration of the practical experience with the sample-to-report genome service provided by Broad and Fabric. The presentation also includes an overview of current findings and advancements from initial cases, along with a discussion on future directions.
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.
Fabric and Broad Cocktail Party
Thursday 03/14, 6 to 8 PM
Fabric Genomics and Broad Clinical Labs are delighted to welcome you to a cocktail reception. Take this opportunity to learn more about our $1K sample-to-report clinical WGS service and network with your peers.
Spacing is limited! Please register via the button below in order to attend.
Accessible long-read genome sequencing and interpretation in the NICU
Learn more about Fabric’s interpretation paired with Oxford Nanopore’s accessible platforms and cutting edge long-read sequencing technology. The sample to answer workflow is aimed at supportting clinicians in acute settings.
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