Project description:In order to validate of CNV detection from low-coverage whole-genome sequencing in the blood samples from recurrent miscarriage couples, we employed a customized array Comparative Genomics Hybridization (aCGH, Agilent) approach as chromosomal microarray analysis (CMA) in present study for a cohort of 78 DNA samples from blood. CMA results were compared with low-coverage whole-genome sequencing detection results. 100% consistency was obtained in pathogenic or likely pathogenic CNVs detection.
Project description:Ostreid Herpesvirus type 1 (OsHV-1) has become a serious infective agent of the Pacific oyster livestock worldwide. In particular, the OsHV-1 muVar subtype has been associated to severe mortality episodes concerning Crassostrea gigas in France and other regions of the world such as Australia and New Zealand. Factors triggering productive infections and virus interactions with susceptible and resistant bivalve hosts are not completely understood though some studies have been undertaken to explore the genes expressed in oysters after infection. We took advantage of an highly infected oyster sample to perform an in-vivo dual RNA-seq analysis. An extremely high sequencing coverage allowed us to explore in detail the Herpesvirus genome and transcriptome, and to identify viral-activated molecular pathways in Crassostrea gigas, thus expanding the current knowledge on the host-virus interactions.
Project description:Primary objectives: The primary objective is to investigate circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
Primary endpoints: circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
| 2533916 | ecrin-mdr-crc
Project description:Ancient high-coverage shotgun human genomes
Project description:Part of a set of highly integrated epigenome maps for Arabidopsis thaliana. Keywords: Illumina high-throughput bisulfite sequencing Whole genome shotgun bisulfite sequencing of wildtype Arabidopsis plants (Columbia-0), and met1, drm1 drm2 cmt3, and ros1 dml2 dml3 null mutants using the Illumina Genetic Analyzer.
Project description:The European flat oyster (Ostrea edulis) production has suffered a severe decline in the last decades mostly due to bonamiosis disease. The responsible parasite, Bonamia ostreae, enters the oyster immune-effector cells, the haemocytes, causing their breakage and an acute inflammatory response frequently leading to oyster death. Here, we used an oyster immune-enriched oligo-microarray to understand the haemocyte response to B. ostreae using two different oyster stocks, naïve (NS) and long-term affected (AS), evaluated at three time points, 1 day post-challenge (dpc), 30 dpc and 90 dpc, using five biological replicates per condition. A total of 213 (134 up-, 79 down-regulated) and 538 (330 up-, 208 down-regulated) regulated genes (RGs) were detected in NS and AS stocks, respectively. AS oysters showed a remarkably higher response at 1 dpc when compared to NS (507 vs 86 RGs), while more RGs were found in NS at 90 dpc (127 vs 31 RGs in AS). No RGs were detected at 30 dpc, which suggests some kind of parasite latency during infection. Further, a total of 837 genes resulted differentially expressed (DE) when comparing NS and AS profiles. The stronger response of the AS stock at the early stage might be indicative of the process of selection for resistance. Genes related to extracellular matrix and proteases inhibitors, up-regulated in the AS oysters, and those related to histones, broadly down-regulated in NS, might have an important role during the infection process. A set of 24 candidate genes potentially related to B. ostreae resistance/susceptibility were identified and they should be further validated for selection programmes aimed to control this parasitosis.
Project description:Low coverage whole genome sequencing (lc-WGS) from inducible Tet TKO (Tet iTKO) and control (Ctrl) mouse ESCs (mESC), as well as for germline Dnmt TKO mESCs. mESCs were sorted to isolate the Live/Dead dye and Thy1.2 negative CD326+GFP+ population representing the mESCs populations responsive to the tamoxifen treatment. The cells were resuspended in FACS buffer and filtered with a 70 µM filter before sorting. These bulk-population samples were analyzed by using low coverage Whole Genome Sequencing (lc-WGS).