Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetic analysis of the patients with early-onset severe preeclampsia

ABSTRACT: This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many single nucleotide polymorphisms have been identified by genome-wide association studies and were found to be associated with PE; however, few studies have used whole-exome sequencing (WES) to identify PE variants.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Beijing Obstetrics and Gynecology Hospital, Capital Medical University

PROVIDER: PRJEB36886 | EVA | 2020-02-24

REPOSITORIES: EVA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	vcf-GOT1-0219.vcf.gz	Vcf
	vcf-GOT1-0219.vcf.gz.tbi	Vcf

Items per page:

1 - 2 of 2

Similar Datasets

SNP array in severe early-onset obesity

Project description:Obesity is considered a multifactorial disorder with high heritability (50-75%), probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including CNVs, have been defined, the genetic causes underlying the disease still remain largely unknown. We aimed to identify novel genetic and genomic abnormalities in a cohort of Spanish children with severe non-syndromic early-onset obesity (EOO). We obtained molecular karyotypes of 157 children with EOO. Large and rare CNVs were validated and segregated in the family. A higher burden of duplication-type CNVs was detected in EOO patients versus controls (OR=1.85, p-value=0.008).

2017-04-28 | E-MTAB-5680 | biostudies-arrayexpress

Genome-wide DNA methylation analysis of placentas from pregnancies complicated by early-onset fetal growth restriction

Project description:Fetal growth restriction (FGR) affects approximately 5–10% of pregnancies and remains a leading cause of perinatal morbidity and mortality. The condition is characterized by the failure of the fetus to achieve its genetically determined growth potential, most commonly as a consequence of placental dysfunction. Despite extensive research, the molecular mechanisms underlying FGR remain incompletely understood. In this study, we investigated whether alterations in placental DNA methylation are associated with early-onset FGR and may contribute to its pathophysiology.

2026-02-11 | GSE314658 | GEO

Gene expression differences of alcohol use disorder in human brain

Project description:Excessive alcohol consumption is a leading cause of preventable death worldwide. Neurobiological mechanisms associated with alcohol use disorder (AUD) remain insufficiently understood. Here, we provide RNA-sequencing data generated in nucleus accumbent and dorsolateral prefrontal cortex, from 114 deceased individuals: 58 AUD cases, 56 non-AUD controls. DNA methylation data on many of these same individuals is available (see GEO accession number GSE252501).

2024-01-19 | GSE253155 | GEO

CeRNA Microarray-Based Identification of Specific LncRNA Markers in Severe Tuberculosis for Early Diagnosis

Project description:Tuberculosis (TB) is still one of the leading causes of death from a single infectious agent in the world.The progression of tuberculosis to severe disease is the main cause of death of tuberculosis patients. Early identification of severe tuberculosis is very important. LncRNA can be used as a potential marker in the diagnosis of tuberculosis, but there is a lack of research on lncRNA in the field of severe tuberculosis.This study aims to use CeRNA Microarray analysis to identify specific lncRNAs as potential biomarkers for severe tuberculosis diagnosis.

2025-06-01 | GSE290321 | GEO

Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan_CNV]

Project description:Breast cancer in Spain remains the first leading cause of cancer-related death in women from all age, and in younger women breast tumors often exhibit more aggressive phenotypes, worse prognosis and more frequently germline mutation in BRCA1/2 genes. Chromothripsis, a massive genome rearrangement, has been recently described but its etiology and effect on cancer cells remain unknown. Chromothripsis in breast cancer has been poorly studied and prevalence rates vary between 11-61%. We have studied chromothripsis-like patterns (CTLPs) in 58 DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer tissues from patients below 40 years old. Chromothripsis was confirmed with website tool CTLPScanner in 10/58 (17%) and most frequently involved chromosomal segment was 17q12-q21 (5/10 cases, 50%). We have also find that chromothripsis was related to low recurrence rates and familial history of breast cancer. In summary, we have analyzed chromothripsis in early-onset breast cancer for the first time and could have a prognostic value for this patients

2021-03-31 | GSE128586 | GEO

Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan]

2021-03-31 | GSE128584 | GEO

Chromothripsis is a prognostic factor in early-onset breast cancer [CytoScan750K_Array]

2021-03-31 | GSE128583 | GEO

NHLBI TOPMed: Boston Early-Onset COPD Study in the TOPMed Program

Project description:<p>Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project collected a set of extended pedigrees ascertained through subjects with severe, early-onset COPD. This study has enrolled subjects with severe COPD (forced expiratory volume in one second (FEV1) < 40% predicted) at an early age (< 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD). Extended pedigrees are enrolled, primarily in New England, although some more geographically distant subjects have been included. This study has been used for epidemiological studies, familial aggregation analysis, linkage analysis, and candidate gene association analysis. Approximately 80 of the severe, early-onset COPD probands will undergo whole genome sequencing in this project with sequencing data available through dbGaP.</p> <p> <ul> <li>This third study release makes available VCF files derived from sequence aligned to genome build 38, in addition to those aligned to build 37 and available through study version 1. The samples in the b38 vs b37 VCF may also differ.</li> </ul> </p>

| phs000946 | dbGaP

Transcriptome of a long-lived mutant nematode with severe mitochondrial deficiency

Project description:Inhibition of insulin/IGF-1 signaling (IIS) represents a promising avenue for the treatment of mitochondrial diseases, although many of the molecular mechanisms underlying this beneficial effect remain elusive. Here, we analyze the transcriptome of a well established model for mitochondrial deficiency, gas-1(fc21) mutant nematodes, which when placed in a genetic context of IIS inhibition, undergo metabolic rewiring leading to a massive lifespan extension

2019-02-12 | GSE122902 | GEO

Expression data of lncRNAs and mRNAs extracted from PBMCs of tuberculosis patients and healthy individuals[HTA2.0]

Project description:Tuberculosis (TB) is the ninth leading cause of death worldwide and the leading cause from a single infectious agent, ranking above HIV/AIDS.Although considerable advances have been achieved in recent years, the genetic and molecular mechanisms underlying this disease remain largely unclear. In the present research, we used the Affymetrix GeneChip Human Transcriptome Array 2.0 to investgate the profiles of differentially expressed lncRNAs and mRNAs from the peripheral blood mononuclear cells (PBMCs) of 7 TB patients and 5 healthy controls (HC).

2018-08-29 | GSE119143 | GEO

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