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.
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
|EGAD00001004357||Illumina HiSeq 2000||219|
|EGAD00001007780||Illumina HiSeq 2000||-|
|EGAD00001007868||Illumina HiSeq 2000||449|
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