Ontology highlight
ABSTRACT:
PROVIDER: PRJNA882936 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Massively parallel sequencing of maternal cell-free DNA (cfDNA) is widely used to test fetal genetic abnormalities in non-invasive prenatal testing (NIPT). However, sequencing-based approaches are still of high cost. Building upon previous knowledge that placenta, the main source of fetal circulating DNA, is hypomethylated in comparison to maternal tissue counterparts of cfDNA, we propose that targeting either unmodified or 5-hydroxymethylated CG sites specifically enriches fetal genetic material and reduces numbers of required analytical sequencing reads thereby decreasing cost of a test.
2020-10-20 | GSE148964 | GEO
Project description:The early detection of tissue and organ damage associated with autoimmune diseases (AID) has been identified as key to improve long-term survival, but non-invasive biomarkers are lacking. Elevated cell-free DNA (cfDNA) levels have been observed in AID and inflammatory bowel disease (IBD), prompting interest to use cfDNA as a potential non-invasive diagnostic and prognostic biomarker. Despite these known disease-related changes in concentration, it remains impossible to identify AID and IBD patients through cfDNA analysis alone. By using unsupervised clustering on large sets of shallow whole-genome sequencing (sWGS) cfDNA data, we uncover AID- and IBD-specific genome-wide patterns in plasma cfDNA in both the obstetric and general AID and IBD populations. Supervised learning of the genome-wide patterns allows AID prediction with 50% sensitivity at 95% specificity. Importantly, the method can identify pregnant women with AID during routine non-invasive prenatal screening. Since AID pregnancies have an increased risk of severe complications, early recognition or detection of new onset AID can redirect pregnancy management and limit potential adverse events. This method opens up new avenues for screening, diagnosis and monitoring of AID and IBD.
2022-09-14 | E-MTAB-11607 | biostudies-arrayexpress
Project description:Whereas non-invasive prenatal testing for aneuploidies (NIPT-A) is widely implemented, non-invasive prenatal testing for monogenic diseases (NIPT-M) is lagging. By capturing and targeted sequencing of 250000 polymorphic SNP loci from maternal plasma circulating cell-free DNA (cfDNA) and DNA from relatives, the fetal haplotype and chromosomal copy numbers are deduced. In all families tested, the cfDNA derived haplotypes are on average 97% concordant with the neonatal and embryo haplotype. This generic non-invasive prenatal diagnostic approach allows cost efficient scrutinizing the fetal genome for the presence of any inherited monogenic disease or trait.
| EGAS00001003634 | EGA
Project description:Improving the Positive Predictive Value of Non-invasive Prenatal Screening (NIPS)
| PRJNA331174 | ENA
Project description:Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. There have been extensive studies focusing on the identification of the Down Syndrome Critical Region (DSCR). Our case aims in providing evidence that duplication of 21q21.1-q21.2 is not included in the DSCR and that it has no clinical consequences on the phenotype. Due to missing the appropriate gestational age for serological screening, Non-Invasive Prenatal Testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The result of NIPT revealed a 5.8Mb maternally inherited duplication of 21q21.1-q21.2. To test whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009) for the fetus. This partial duplication of 21q21.1-q21.2 for the fetus was maternally inherited. The pregnant woman and her family decided to continue the pregnancy after genetic counseling. This case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most probably has no clinical consequences on the phenotype.
2021-06-05 | GSE176138 | GEO
Project description:Currently, the majority of patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) present with locally invasive and/or metastatic disease, resulting in five-year survival of less than 5%. The development of an early diagnostic test is, therefore, expected to significantly impact the patient’s prognosis. In this feasibility study, we demonstrate for the first time the utility of miRNA biomarkers for non-invasive, early detection of PDAC in urine specimens.
2016-01-28 | GSE71962 | GEO
Project description:Cardiomyopathy is a heart muscle disease and diagnosis relies on radiography and echocardiography, while blood-based markers are lacking. Development of a non-invasive test would be useful when imaging is not possible (e.g., prenatal diagnosis). In southern sea otters (Enhydra lutris nereis), cardiomyopathy is a prevalent cause of mortality and antemortem diagnosis is challenging. Sea otters requiring clinical care are at significant anesthetic risk if cardiomyopathy is present. A blood-based assay would improve triage decisions, case management, and treatment protocols to safeguard against co-morbidities. With support from the Oiled Wildlife Care Network, we analyzed undepleted sea otter serum using mass spectrometry-based proteomics. Though the larger sample set included 63 sera (that included a validation set of 22 sera with class labels blinded to the data collector), we a priori compared only samples from wild otters. Additionally, we generated proteomic data for four heat tissues with paired sera. These results demonstrate the utility of proteomic analysis, offer a glimpse into the sea otter proteome, and serve as a reference data set for relative protein abundance in sera and cardiac tissue.
2021-12-22 | PXD030595 | Pride
Project description:To test whether HIF-1a can directly induce Timp1 expression in periosteal cells at the pre-invasive stage of head and neck squamous cell carcinoma (HNSCC), we performed Chromatin immunoprecipitation followed by sequencing (ChIP–seq) on periosteal cells derived from the pre-invasive stage of a mouse HNSCC bone invasion model by using antibodies to acetylated histone H3 Lys27 (H3K27ac), H3K4me3 and HIF-1α.
2024-06-17 | GSE256307 | GEO
Project description:BACs-on-Beads (BoBs) assay and Copy Number Variation Sequencing (CNV-Seq) are two frequently used methods in today’s prenatal diagnosis. Several researches studies were conducted to investigate the performance of each approach, but they were never compared side by side. This dataset is intended to be used as the 'gold standard dataset' for the validation of BoBs/CNV-seq test reasults on 10 amniotic fluid samples with pathogenic fetal CNVs.
2020-06-12 | GSE152288 | GEO