Study

Next Generation Children project - WGS study of patients in NICU and PICU and their families

Study ID Alternative Stable ID Type
EGAS00001003002 Other

Study Description

With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. Whole genome sequencing data.

Study Datasets 3 datasets.

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
EGAD00001004357
Whole genome sequencing of sick children in neonatal and paediatric intensive care units. Datasets EGAD00001007780 (GRCh37) and EGAD00001007868 (GRCh38) are extentions of this dataset.
Illumina HiSeq 2000 219
EGAD00001007780
Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh37.
Illumina HiSeq 2000 N/A
EGAD00001007868
Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh38.
Illumina HiSeq 2000 449

Who archives the data?

Publications

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