Automating Library Preparation for Rapid WGS-Based Diagnosis of Rare Diseases in the Neonatal Intensive Care Unit

 Case Study  Al Jalila Children’s Specialty Hospital, United Arab Emirates
CaseStudy_NGS rare diseases_Al Jalila
More about NGS in the Dx of Rare Diseases

What's in the Case Study?

 In this Case Study, the Genomics Center of Excellence (CoE) at Al Jalila Children’s Specialty Hospital in Dubai describes the automation of an Illumina-based rapid Whole-Genome Sequencing (rWGS) workflow, aiming to provide quicker diagnoses for neonatal patients.

Highlights of this Case Study:

  • Utility of genetic testing in clinical diagnosis and relevance of the Little Falcon Project
  • Automation of Illumina’s DNA PCR-Free Library Prep kit on Hamilton Microlab® NGS STAR
  • Method implementation on Hamilton instruments: flexibility and availability of biologically-verified methods 


 
NGS Workflow_Al Jalila

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