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PacBio and GeneDx collaborate to enhance pediatric genetic diagnosis
Precision Medicine
Aug 7, 2023
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Precision Medicine

Precision Medicine

Aug 7, 2023

PacBio and GeneDx collaborate to enhance pediatric genetic diagnosis

Partnerships

  • AI-powered genomic and clinical data intelligence company GeneDx (formerly Sema4) and PacBio, a developer of sequencing solutions, are collaborating with the University of Washington to explore the potential of long-read whole-genome sequencing (WGS) to improve diagnostic rates for pediatric patients with genetic conditions.

  • The collaboration aims to study the capabilities of PacBio's HiFi, long-read WGS in diagnosing genetic conditions in pediatric patients. GeneDx will perform WGS sequencing and analysis on samples from 350 individuals, including participants from the SeqFirst WGS study at Seattle Children's Hospital and their parents. This research seeks to uncover novel genetic variants that traditional short-read sequencing methods may miss.

  • The PacBio Revio sequencing system will be used for the long-read WGS to enhance accuracy and read length for better diagnostic yield. The study's results will be contributed to the Consortium of Long Read Sequencing (CoLoRS) database. Google's involvement will provide funding and support for the project to improve healthcare outcomes through AI-driven solutions and highly accurate sequencing.

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