7f44419d-b4f7-4ae9-9d6e-21dac58a252e - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001004989 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Aims: Cancer is an important public health problem worldwide. In recent years, methods based on the analysis of plasma cfDNA which is as an emerging technology have been largely explored for noninvasive prenatal testing and cancer liquid biopsy. We inferred both epigenetic and genetic biomarkers of esophageal cancer (ESCA) in cfDNA with adapted SALP-seq. Materials & methods: Next Generation Sequencing libraries of cfDNA samples from ESCA patients and healthy people were constructed by using SALP-seq. We performed bioinformatics analysis on our sequencing data to find cancer-specific biomarkers. Results & conclusion: 54 important regulatory elements of ESCA, 49 epigenetic and 37 genetic ESCA-specific genes were inferred in cfDNA with SALP-seq, which may ultimately contribute to the development of effective diagnostic and therapeutic approaches for ESCA.
2022-08-28 | GSE136541 | 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:<p>In the last decade, non-invasive prenatal diagnosis (NIPD) has emerged as an effective procedure for early detection of inherited diseases during pregnancy. This technique is based on using cell-free DNA (cfDNA) and fetal cfDNA (cffDNA) in maternal blood, and hence, has minimal risk for the mother and fetus compared with invasive techniques. NIPD is used today for identifying chromosomal abnormalities (in some instances) and for single-gene disorders (SGDs) of paternal origin. However, for SGDs of maternal origin, sensitivity poses a challenge that limits the testing to one genetic disorder at a time. Here we present a Bayesian method for the NIPD of monogenic diseases that is independent of the mode of inheritance and parental origin. Furthermore, we show that accounting for differences in the fragment length distribution of fetal- and maternal-derived cfDNA results in increased accuracy. Our model is the first to predict inherited insertions-deletions (indels). The method described can serve as a general framework for the NIPD of SGDs; this will facilitate easy integration of further improvements. One such improvement that is presented in the current study is a machine learning model that corrects errors based on patterns found in previously processed data. Overall, we show that next generation sequencing (NGS) can be used for the NIPD of a wide range of monogenic diseases, simultaneously. We believe that our study will lead to the achievement of a comprehensive NIPD for monogenic diseases.</p> <p>(Reprinted from Bayesian-based noninvasive prenatal diagnosis of single-gene disorders, with permission from Genome Research) </p>
| phs001659 | dbGaP
Project description:Integrative multi-omic approaches have been increasingly applied to discovery and functional studies of complex human diseases. Short-term preoperative antibiotics have been adopted to reduce site infections in colorectal cancer (CRC) resections. We hypothesize that the antibiotics will impact analysis of multi-omic datasets generated from resection samples to investigate biological CRC risk factors. To assess the impact of preoperative antibiotics on integrated microbiome and human transcriptomic data generated from archived frozen CRC resection samples. Genomic DNA (gDNA) and RNA were extracted from 51 pairs of frozen sporadic CRC tumor and adjacent non-tumor mucosal samples from 50 CRC patients archived at a single medical center. 16S rRNA gene sequencing (V3V4 region, paired end (PE), 300 bp) and confirmatory quantitative polymerase chain reaction (qPCR) assays were conducted on gDNA. RNA sequencing IPE, 125bp) was performed on parallel tumor and non-tumor RNA samples with RNA Integrity Numbers (RIN) scores ≥ 6.
2021-04-21 | GSE165255 | GEO
Project description:Species often produce sterile hybrids early in their evolutionary divergence, and some evidence suggests that hybrid sterility may be associated with deviations or disruptions in gene expression. In support of this idea, many studies have shown that a high proportion of male-biased genes are underexpressed compared to non-sex-biased genes in sterile F1 male hybrids of Drosophila species. In this study, we examined and compared patterns of misexpression in F1 hybrid male third instar larvae of Drosophila simulans and its sibling species, D. sechellia. We analyzed hybrids using custom cDNA arrays we developed from RT-PCRs of spermatogenesis-related transcripts from these species and another sibling species (D. mauritiana). The results from a commercial genome-wide array and custom chip for adults of this species pair, from the custom chip and the genome-wide chip for adults of the D. simulans-D. mauritiana species pair, and from the larvae of the D. simulans-D. mauritiana species pair, are presented separately. Keywords: Comparison of pure-species Drosophila expression to hybrid expression in larvae
2006-09-13 | GSE5598 | GEO
Project description:Species often produce sterile hybrids early in their evolutionary divergence, and some evidence suggests that hybrid sterility may be associated with deviations or disruptions in gene expression. In support of this idea, many studies have shown that a high proportion of male-biased genes are underexpressed compared to non-sex-biased genes in sterile F1 male hybrids of Drosophila species. In this study, we examined and compared patterns of misexpression in F1 hybrid male third instar larvae of Drosophila simulans and its sibling species, D. mauritiana. We analyzed hybrids using custom cDNA arrays we developed from RT-PCRs of spermatogenesis-related transcripts from these species and another sibling species (D. sechellia). The results from a commercial genome-wide array and custom chip for adults of this species pair, from the custom chip and the genome-wide chip for adults of the D. simulans-D. sechellia species pair, and from the larvae of the D. simulans-D. sechellia species pair, are presented separately. Keywords: Comparison of pure-species Drosophila expression to hybrid expression
2006-09-13 | GSE5592 | GEO
Project description:We performed all stimulatory experiments using THP1 cell line as a representative of primary human monocytes to show fundamental role of the cfDNA in healthy organisms. The experiments were conducted in duplicates using plasma containing cfDNA (NP) and the reference one with cfDNA removed by DNase (TP) to recognize unequivocally the effect of plasma cfDNA on transcriptome and proteome of monocytes. We used native human plasma samples obtained from healthy volunteers with no animal serum addition to cultivation medium in order to avoid the presence of uncharacterized animal cfDNA in the experiments.
2021-05-18 | PXD017285 | Pride
Project description:Species often produce sterile hybrids early in their evolutionary divergence, and some evidence suggests that hybrid sterility may be associated with deviations or disruptions in gene expression. In support of this idea, many studies have shown that a high proportion of male-biased genes are underexpressed compared to non-sex-biased genes in sterile F1 male hybrids of Drosophila species. In this study, we examined and compared patterns of misexpression in 4 day old sterile male F1 hybrids of Drosophila simulans and its sibling species, D. mauritiana. We analyzed hybrids using genome-wide D. melanogaster arrays from the Drosophila Genome Resource Center (DGRC). The results from a custom array (GPL4022) for this species pair, from the custom array and the genome-wide array for the D. simulans-D. sechellia species pair, and from the larvae of these two species pairs using the custom array, are presented separately. Keywords: Comparison of pure-species Drosophila expression to hybrid expression
2006-09-13 | GSE5601 | GEO
Project description:Species often produce sterile hybrids early in their evolutionary divergence, and some evidence suggests that hybrid sterility may be associated with deviations or disruptions in gene expression. In support of this idea, many studies have shown that a high proportion of male-biased genes are underexpressed compared to non-sex-biased genes in sterile F1 male hybrids of Drosophila species. In this study, we examined and compared patterns of misexpression in 4 day old sterile male F1 hybrids of Drosophila simulans and its sibling species, D. sechellia. We analyzed hybrids using custom cDNA arrays we developed from RT-PCRs of spermatogenesis-related transcripts from these species and another sibling species (D. mauritiana). The results from a commercial genome-wide array for this species pair, from the custom chip and the genome-wide chip for the D. simulans-D. mauritiana species pair, and from the larvae of these two species pairs using the custom chip, is presented separately. Keywords: Comparison of pure-species Drosophila expression to hybrid expression
2006-09-13 | GSE5600 | GEO
Project description:Species often produce sterile hybrids early in their evolutionary divergence, and some evidence suggests that hybrid sterility may be associated with deviations or disruptions in gene expression. In support of this idea, many studies have shown that a high proportion of male-biased genes are underexpressed compared to non-sex-biased genes in sterile F1 male hybrids of Drosophila species. In this study, we examined and compared patterns of misexpression in 4 day old sterile male F1 hybrids of Drosophila simulans and its sibling species, D. mauritiana. We analyzed hybrids using custom cDNA arrays we developed from RT-PCRs of spermatogenesis-related transcripts from these species and another sibling species (D. sechellia). The results from a commercial genome-wide array for this species pair, from the custom chip and the genome-wide chip for the D. simulans-D. sechellia species pair, and from the larvae of these two species pairs using the custom chip, is presented separately. Keywords: Comparison of pure-species Drosophila expression to hybrid expression
2006-09-13 | GSE5599 | GEO