Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Ena-DATASET-UCAM-GEL-15-06-2021-12:25:41:698-911 - samples

ABSTRACT: Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh37.

PROVIDER: EGAD00001007780 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

ena-DATASET-UCAM-GEL-16-07-2021-13:58:20:595-242 - samples

Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh38.

| EGAD00001007868 | EGA

ena-DATASET-UCAM-GEL-25-09-2018-11:04:46:684-102 - samples

Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units. Datasets EGAD00001007780 (GRCh37) and EGAD00001007868 (GRCh38) are extentions of this dataset.

| EGAD00001004357 | EGA

Homo sapiens

Project description:Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

| PRJNA178615 | ENA

Homo sapiens

Project description:Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

| PRJNA178616 | ENA

Klebsiella pneumoniae from Ghana

Project description:Carbapenemase and ESBL-producing Klebsiella pneumoniae in neonatal intensive care units in Ghana

| PRJEB37523 | ENA

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

Project 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.

| EGAS00001003002 | EGA

Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in the NICU

Project description:Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3,500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. As such, an immense unmet need exists for improved molecular diagnosis in infants. Because disease progression is extremely rapid, albeit heterogeneous, in newborns, molecular diagnoses must occur quickly to be relevant for clinical decision-making. We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automated bioinformatic analysis and is intended to be a prototype for use in neonatal intensive care units. Retrospective 50-hour WGS identified known molecular diagnoses in two children. Prospective WGS disclosed potential molecular diagnosis of a severe GJB2-related skin disease in one neonate; BRAT1-related lethal neonatal rigidity and multifocal seizure syndrome in another infant, identified BCL9L as a novel, recessive visceral heterotaxy gene (HTX6) in a pedigree, and ruled out known candidate genes in one infants. Sequencing of parents or affected siblings expedited the identification of disease gene in prospective cases. Thus, rapid WGS can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling. Reprinted from Saunders et. al, Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. Sci. Transl. Med. 4, 154ra135 (2012; <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Rapid%20Whole-Genome%20Sequencing%20for%20Genetic%20Disease%20Diagnosis%20in%20Neonatal%20Intensive%20Care%20Units">PMID: 23035047</a>) with permission from AAAS.

| phs000564 | dbGaP

Project description:Bacterial isolates from intensive care units

| PRJNA267549 | ENA

The hospital sink drain biofilm resistome is independent of the corresponding microbiota, the environment and disinfection measures

Project description:sink drain biofilms in intensive care units

| PRJEB83107 | ENA

ChIP-seq analysis with an antibody directed against the human H3K27ac protein in Raji cells (Genbank: KF717093.1) prior to and post induction of BZLF1.

Project description:ChIP peaks were identified in both the human and viral genomes (genome assembly GRCh37 (hg19) and Epstein-Barr virus, Human Herpesvirus 4; GenBank accession KF717093.1).

2021-06-22 | E-MTAB-8421 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data