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Utility of whole exome sequencing for genomic newborn screening in India

This study evaluates the use of genomic newborn screening to identify clinically relevant genetic variants in critically ill neonates. The project aims to investigate the potential of whole-exome sequencing (WES) for the early identification of rare genetic disorders. The study seeks to improve early diagnosis and support timely clinical management of neonates with suspected genetic conditions.

Type: Exome Sequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002971	This dataset comprises whole-exome sequencing (WES) data from critically ill neonates enrolled as part of a genomic newborn screening programme. Samples were analysed to identify genetic variants potentially associated with neonatal illness and underlying inherited disorders. WES was performed using lllumina Sequencing platform-NovaSeqX, and the resulting sequencing data are provided in FASTQ format.	Illumina NovaSeq X Plus	105