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Next Generation Sequencing in the Diagnosis of Rare Diseases

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eBook NGS Rare Diseases

eBook

Are you interested in learning more about the impact of Next-Generation Sequencing (NGS) in the diagnosis of rare diseases?

Do you want to have a better understanding of how automation can help laboratories standardize the performance of the majority of steps in the NGS workflow?

Case Study

In this case study, Genuity Science, explains the benefits of automating NGS workflows for trio analysis in patients with rare diseases.

Case Study Genuity
Webinar Genuity

Webinar

In this Webinar, we describe the automation journey that Genuity Science has followed to achieve its current sequencing capabilities.

Technical Note

In this Technical Note, we describe how the Radboud Genome Technology Center implemented a rapid automated Whole Exome Sequencing (WES) workflow using Covaris's R230 Focused-ultrasonicator integrated alongside a Hamilton Microlab® STAR Liquid Handling Platform.

Technical Note Covaris Hamilton
CaseStudy_NGS rare diseases_Al Jalila

Case Study

Learn how the Genomics Center of Excellence (CoE) at Al Jalila Children’s Specialty Hospital in Dubai used Hamilton Liquid Handlers to automate an Illumina-based rapid Whole-Genome Sequencing (rWGS) workflow, aiming to provide quicker diagnoses for neonatal patients.