15028 results for "cancer studies using rna-seq"

in 17.47 milliseconds.

• RNA sequencing of human fetal brain at 7, 9, 12, 15 and 21 gestational weeks

  The dataset contains raw sequences (FASTQ files) from the Illumina 2x150bp paired-end RNA sequencing profiles of 11 fetal human brain samples at 7, 9, 12, 15 and 21 gestational weeks

  Dataset EGAD00001003915

• Genome Sequencing of Circulating Tumor Cells for Minimally Invasive Molecular Characterization of Multiple Myeloma Pathology

  ​​Multiple Myeloma (MM) develops from well-defined precursor stages known as Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering MM (SMM); however, invasive bone marrow (BM) biopsy limits screening and monitoring strategies for patients. In this study, we enumerated circulating tumor cells (CTCs) from patients with precursor and overt diseases, and developed a novel approach, MinimuMM-seq, which enables detection of translocations and copy number abnormalities through whole-genome sequencing of highly pure CTCs. In a cohort of 51 patients, 24 with paired BM, we applied our method MinimuMM-seq and detected 100% of clinically reported BM biopsy events. The next-generation sequencing (NGS) assay could replace molecular cytogenetics by Fluorescence In Situ Hybridization (FISH) for diagnostic yield and risk classification. In 8 patients we could apply MinimuMM-seq on serially collected samples to track and monitor major clones in peripheral blood. We describe clonal evolution and shifting dynamics of subclones over time, as well as in between blood and marrow compartments. All whole-genome sequencing (WGS) data generated in this study will be made accessible through dbGaP.

  Study phs003084

• Phased whole genome sequencing of 10 melanoma samples

  We have sequenced 10 melanoma samples using 10X linked reads technology to obtain phased whole genome sequence data. Using this data, we created diploid personalized genomes for each sample and aligned functional genomics data obtained from the same samples in order to find allele specific events (such as allele-specific binding and allele-specific chromatin accessibility).

  Study EGAS00001004136

• Abnormal_foetal_development_exome_trios

  This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group

  Study EGAS00001000167

• Profiling of H3K27ac landscape in immune cells from rheumatoid arthritis patients and healthy controls

  We collected peripheral blood mononuclear cells (PBMC) from 6 RA patients and 4 healthy controls, as well as synovial fluid from the same RA patients. We then sorted B cells, CD4+ and CD8+ T cells, regulatory T cells and monocytes using flow cytometry and profiled regions marked with H3K27ac using CUT&Tag.

  Study EGAS00001005085

• Epi2Diag

  Genomic DNA was extracted from whole blood and bisulfite converted using the EZ DNA Methylation Lightning Kit (Zymo research). DNA methylation profile was then derived using Illumina’s Infinium EPIC array v2.0. in accordance with the manufacturer’s protocol at the ASGARD-Rouen genomic platform (Inserm U1245, University of Rouen and Rouen University Hospital, Rouen France) on an Illumina NextSeq550 scanner.

  Study EGAS00001008070

• Whole exome sequencing of atypical 3q26 samples

  The Genomic DNA Clean & Concentrator kit (ZYMO Research) was used to remove EDTA from the DNA samples. Sample libraries were prepared using 100 ng of input according to the KAPA HyperPlus Kit (Roche) using Unique Dual Index adapters (Integrated DNA Technologies, Inc.). Exomes were captured using the SeqCap EZ MedExome (Roche Nimblegen) according to SeqCap EZ HyperCap Library v1.0 Guide (Roche) with the xGen Universal blockers – TS Mix (Integrated DNA Technologies, Inc.). The amplified captured sample libraries were paired-end sequenced (2x100 bp) on the Novaseq 6000 platform (Illumina) and aligned to the hg19 reference genome using the Burrows-Wheeler Aligner (BWA).

  Dataset EGAD00001006102

• Gut metagenome/FR 2002

  The main goal of the project is the study the associations between the gut metagenome and human health. The dataset contains data for n=7211 FINRISK 2002 participants who underwent fecal sampling. Demultiplexed shallow shotgun metagenomic sequences were quality filtered and adapter trimmed using Atropos (Didion et al., 2017), and human filtered using Bowtie2 (Langmead and Salzberg, 2012).

  Study EGAS00001005038

• Genomic Variant Dataset of 5,309 Jeju Residents: Integrated WGS and SNP Array Analysis

  This dataset comprises genomic data from the Jeju Genome Project (JGP). WGS libraries were prepared using TruSeq Nano DNA kits and sequenced on Illumina NovaSeq 6000, with variants called via the DRAGEN Germline pipeline (v4.0.3). Genotyping was performed using the customized Axiom_JPMI v1 Chip on the Affymetrix GeneTitan platform. Raw data were processed using APT (v2.11.4), followed by phasing with Eagle (v2.4.1) and imputation via Minimac3 (v2.0.1) using a JGP-specific reference panel to optimize accuracy for the Jeju population.

  Dataset EGAD50000002451

• Finding the way towards the eradication of therapy-related myeloid neoplasms

  Therapy-related neoplasms are directly caused by the drugs used to eradicate a previous cancer. It is well known that a subset of drugs designed to kill cancer cells through DNA-damage-induced apoptosis can intrinsically, as secondary effect, cause DNA-damage in other cells, thus inducing a neoplasm. Those neoplasms have especially bad prognosis. Why are these drugs still in use? Because for many diseases we do not have anything better, at the moment. Approximately 0.5-1% of the kids treated for various types of cancers develop a therapy-related myeloid neoplasm (tMN) as a result of the treatment. Despite having the same origin, their prognostic and molecular features are different from the adult ones, and a complete understanding of the pathogenesis of tMN in children is still missing. A total of 84 paediatrics neoplasms have been profiled by either Whole Genome or Whole Exome sequencing by Jason R. Schwartz and his colleagues, in a collaborative effort guided at the St. Jude Children's hospital, in Memphis. They identified a mean of 28 somatic mutations per patient, a number which is significantly bigger than the number of mutations found in paediatrics primary neoplasms, as depicted in the original paper's figure 1b, shown here. Their sequencing data identified that Ras/MAPK pathway mutations, alterations in RUNX1 or TP53, and KMT2A rearrangements as the most frequent drivers of the disease. Clonal evolution analysis (the comparative study of the behaviour of cells harbouring different mutations) highlighted that, unlike in adults’ tMN, there were not pre-existing leukemic clones, and virtually all mutated cells were found arising as a direct consequence of cytotoxic therapy. This represents yet another important difference between adult and paediatric tMN. This important study have been published in Nature communications in February 2021. The sequencing data have been deposited at EGA under the study number EGAS00001004850. Thanks to this, other researchers around the world could re-use it to uncover more information, integrate and validate their studies. Revealing the molecular features underlying the development of cancers is the only way towards the development of new generation targeted therapies, which will allow us to finally drop the cytotoxic drugs eliciting such unwanted and catastrophic secondary effects as tMN. It is not an overstatement to say that, while improving the treatment of primary tumours, we could entirely eradicate therapy-related neoplasms right from their origin. Looking forward.

  Blog eradication-of-therapy-related-myeloid-neoplasms

• TwinsUK_Whole_Skin_DNA_Methylation_Microarray_Data

  Whole-skin DNA Methylation profiled using Illumina Infinium HumanMethylation450 BeadChip Arrays. Methylation was quantified in beta values, which were normalised using the regRCPqn algorithm.

  Dataset EGAD00010002671

• Million Veteran Program (MVP) Summary Results from Non-Sensitive Omics Studies

  MVP is an ongoing prospective cohort study and mega‐biobank in the Department of Veterans Affairs Healthcare System designed to study genetic influences on health and disease among veterans. This is the accession to hold publicly available results. Results from sensitive phenotypes or MVP population subsets can be found at accession phs001672 and will require an application for access.

  Study phs002453

• ChIP_2PEAKS

  Second batch of ChIP-seq narrowPeaks. Software: MACS2 v2.1.2

  Dataset EGAD00010002051

• scRNA-seq analysis Identifies Hepatic IL-13-Producing ILC3-Like Cells Potentially Linked to Liver Fibrosis

  Study EGAS00001007207

• Human oligodendroglial progenitor cells (hGPCs/OPCs) derived from induced pluripotent stem cell (iPS) scCRISPRi/a-seq

  Dac EGAC50000000804

• Extreme phenotypes define epigenetic and metabolic signatures in cardiovascular diseases

  Improving the understanding of cardiometabolic syndrome pathophysiology and its relationship with thrombosis are ongoing healthcare challenges. Using plasma biomarkers analysis coupled with the transcriptional and epigenetic characterisation of cell types involved in thrombosis, obtained from two extreme phenotype groups (obese and lipodystrophy) and comparing these to lean individuals and blood donors, the present study identifies the molecular mechanisms at play, highlighting patterns of abnormal activation in innate immune phagocytic cells and shows that extreme phenotype groups could be distinguished from lean individuals, and from each other, across all data layers. The characterisation of the same obese group, six months after bariatric surgery shows the loss of the patterns of abnormal activation of innate immune cells previously observed. However, rather than reverting to the gene expression landscape of lean individuals, this occurs via the establishment of novel gene expression landscapes. Netosis and its control mechanisms emerge amongst the pathways that show an improvement after surgical intervention. Taken together, by integrating across data layers, the observed molecular and metabolic differences form a disease signature that is able to discriminate, amongst the blood donors, those individuals with a higher likelihood of having cardiometabolic syndrome, even when not presenting with the classic features.

  Dataset EGAD00001005197