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PGI issues tender for next-gen genome-exome sequencing to boost paediatric research

Dr Rakesh Kumar Pilania is the principal investigator of the project, and the sequencing process will include DNA isolation, quality control, library preparation, and advanced bioinformatics analysis.

Dr Rakesh Kumar Pilania is the principal investigator of the project, and the sequencing process will include DNA isolation, quality control, library preparation, and advanced bioinformatics analysis.Dr Rakesh Kumar Pilania is the principal investigator of the project, and the sequencing process will include DNA isolation, quality control, library preparation, and advanced bioinformatics analysis. (Representational Image/FreePik)

The PGIMER has issued a new tender for Next Generation Whole Genome-Exome Sequencing to strengthen research and diagnostic capabilities in complex paediatric disorders. The project will focus on analysing 60 samples to identify both rare and common genetic variants associated with conditions such as Kawasaki disease, which often remain undetectable through standard diagnostic methods. The technology will boost early detection and personalised treatment strategies, enabling targeted therapies based on a patient’s unique genetic profile.

Dr Rakesh Kumar Pilania is the principal investigator of the project, and the sequencing process will include DNA isolation, quality control, library preparation, and advanced bioinformatics analysis. The data will also support genome-wide association studies (GWAS) and population genomics research, providing a robust framework for understanding disease susceptibility and risk prediction.

The PGI has set a turnaround time of 30 days from the shipment of samples, ensuring timely results for researchers. Selected vendors will also be responsible for sample transportation, storage, and compliance with all regulatory and technical requirements.

Experts believe that the project could mark a significant step forward in paediatric genomics in India. By identifying the genetic underpinnings of rare and complex diseases, the sequencing will allow for early interventions, improved patient outcomes, and potentially preventive strategies for at-risk families.

With this tender, the PGI aims to not only expand its research capabilities but also establish itself as a pioneer in precision medicine and genomics-driven healthcare. The successful implementation of the project could serve as a model for other medical institutions, bridging the gap between advanced genomic technologies and practical clinical application.

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