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

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.

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 Illumina HiSeq 2000 219
EGAD00001007780 Illumina HiSeq 2000 -
EGAD00001007868 Illumina HiSeq 2000 449
Publications Citations
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Genome Med 10: 2018 95
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Intensive Care Med 45: 2019 627-636
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Genet Med 22: 2020 945-953
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
HGG Adv 3: 2022 100113