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

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	-
EGAD00001007868	Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh38.	Illumina HiSeq 2000	449

Publications	Citations
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Genome Med 10: 2018 95	81
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, NIHR BioResource—Rare Disease, Next Generation Children Project, Rowitch DH, Raymond FL. Intensive Care Med 45: 2019 627-636	123
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, NIHR BioResource, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Genet Med 22: 2020 945-953	59
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. French CE, Dolling H, Mégy K, Sanchis-Juan A, Kumar A, Delon I, Wakeling M, Mallin L, Agrawal S, Austin T, Walston F, Park SM, Parker A, Piyasena C, Bradbury K, Next Generation Children’s Project Consortium, Ellard S, Rowitch DH, Raymond FL. HGG Adv 3: 2022 100113	3