Ena-DATASET-UCAM-GEL-16-07-2021-13:58:20:595-242 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001007868 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh37.
| EGAD00001007780 | EGA
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
Project description:Carbapenemase and ESBL-producing Klebsiella pneumoniae in neonatal intensive care units in Ghana
| PRJEB37523 | ENA
Project description:Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
| PRJNA178616 | ENA
Project description:Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
| PRJNA178615 | ENA
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
Project description:<p>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 <i>GJB2</i>-related skin disease in one neonate; <i>BRAT1</i>-related lethal neonatal rigidity and multifocal seizure syndrome in another infant, identified <i>BCL9L</i> as a novel, recessive visceral heterotaxy gene (<i>HTX6</i>) 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.</p> <p>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.</p>
| phs000564 | dbGaP
Project description:The genus Cronobacter (formerly called Enterobacter sakazakii) is composed of five species; C. sakazakii, C. malonaticus, C. turicensis, C. muytjensii, and C. dublinensis. The genus includes opportunistic human pathogens, and the first three species have been associated with neonatal infections. The most severe diseases are caused in neonates and include fatal necrotizing enterocolitis and meningitis. The genetic basis of the diversity within the genus is unknown, and few virulence traits have been identified. We report here the first sequence of a member of this genus, C. sakazakii strain BAA-894. The genome of Cronobacter sakazakii strain BAA-894 comprises a 4.4 Mb chromosome (57% GC content) and two plasmids; 31 Kb (51% GC) and 131 Kb (56% GC). The genome was used to construct a 385,000 probe oligonucleotide tiling DNA microarray covering the whole genome. Comparative genomic hybridization (CGH) was undertaken on five other C. sakazakii strains, and representatives of the four other Cronobacter species. Among 4,382 annotated genes inspected in this study, about 55% of genes were common to all C. sakazakii strains and 43% were common to all Cronobacter strains, with 10 - 17% absence of genes. CGH highlighted 15 clusters of genes in C. sakazakii BAA-894 that were divergent or absent in more than half of the tested strains; six of these are of probable prophage origin. Putative virulence factors were identified in these prophage and in other variable regions. A number of genes unique to Cronobacter species associated with neonatal infections (C. sakazakii, C. malonaticus and C. turicensis) were identified. These included a copper and silver resistance system known to be linked to invasion of the blood-brain barrier by neonatal meningitic strains of Escherichia coli. In addition, genes encoding for multidrug efflux pumps and adhesins were identified that were unique to C. sakazakii strains from outbreaks in neonatal intensive care units. Comparative genomic hybridization highlighted 15 clusters of genes in C. sakazakii BAA-894 that were divergent or absent in more than half of the tested strains; six of these are of probable prophage origin. Putative virulence factors were identified in these prophage and in other variable regions. A number of genes unique to Cronobacter species associated with neonatal infections (C. sakazakii, C. malonaticus and C. turicensis) were identified. These included a copper and silver resistance system known to be linked to invasion of the blood-brain barrier by neonatal meningitic strains of Escherichia coli. In addition, genes encoding for multidrug efflux pumps and adhesins were identified that were unique to C. sakazakii strains from outbreaks in neonatal intensive care units. Ten Cronobacter samples were analyzed, including total genomic DNA of six C. sakazakii strains, one C. malonaticus strain, one C. muytjensii strain, one C. dublinensis strain and one C. turicensis strain.
2010-05-06 | E-GEOD-19308 | biostudies-arrayexpress
Project description:Extreme preterm infants are a growing population in neonatal intensive care units who carry a high mortality and morbidity. Multiple factors play a role in preterm birth, resulting in major impact on organogenesis leading to complications including bronchopulmonary dysplasia (BPD). The goal of this study was to identify biomarker signatures associated with BPD severity. We analyzed profiles in tracheal aspirates (TAs) from 25 extremely preterm infants receiving invasive mechanical ventilation. Eight infants were diagnosed with mild/moderate BPD, and 17 were diagnosed with severe BPD, according to the NHLBI consensus conference classification . We found specific miRNA signatures in TAs that may serve as biomarkers for BPD severity.
2021-01-30 | GSE165828 | GEO