4abd8084-ce6c-404f-b636-2e60286ff2b0 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001005480 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:DNA from mature sperm was obtained from a mouse heterozygous for a mutation in Setdb1 (MommeD13) and a wildtype control mouse. The DNA was bisulfite converted and sequenced on a HiSeq 2000 to ~30x coverage. After mapping the resulting reads to the mouse genome DNA methyalation values at CpG dinucleotides were obtained as the ratio of reads with unconverted Cs relative to the sum of converted and unconverted reads. The resulting values were used to identify sites with a shift in the percentage of methylated CpGs between wildtype and mutant sperm.
2017-02-09 | GSE72265 | GEO
Project description:WGS blood data (fastq raw read sequences) for French ICGC leiomyosarcoma cancer sequencing project, 67 samples representing 67 donors. Sequencing was performed on Illumina HiSeq. The libraries were then sequenced with a 2 x 100bp paired-end protocol to a minimum mean coverage of 30x.
| EGAD00001003190 | EGA
Project description:To optimize the genome annotation, two tissue RNA libraries (i.e. liver and muscle) were constructed using the Illumina mRNA-Seq Prep Kit This study is a part of the Pseudopodoces humilis WGS project (BioProject ID: PRJNA179234) and was used for gene annotation improvement. We sequenced two tissues using illumina Hiseq 2000 platform.
2013-11-29 | E-GEOD-44779 | biostudies-arrayexpress
Project description:The goal of this study is to identify genomic signatures predicitve of cell-of-origin in acute myeloid leukemia Cryopreserved leukemic bone marrow samples were thawed, and 50,000 bulk leukemia (GFP+) cells were sorted by FACSAria (BD). Samples were placed at 37oC and 5% CO2 in IMDM plus 10% fetal calf serum for 30 minutes, then harvested, washed with 1X PBS, and ATAC-seq libraries were prepared. Quantitative PCR using the Library Quantitation kit (Kapa Biosystems) was used to estimate library concentrations. Libraries were sequenced on the Illumina HiSeq 2000 platform generating 2x150bp paired end reads at a sequencing depth of ~30-50 million reads per sample. Libraries were sequenced on the Illumina HiSeq 2000 platform.
2016-07-12 | GSE74688 | GEO
Project description:The goal of this study is to identify genomic signatures predicitve of cell-of-origin in acute myeloid leukemia Cryopreserved leukemic bone marrow samples were thawed, and 50,000 LSCs (L-GMP; GFP+ Lin- Sca-1- c-Kit+ CD34+ FcγR+) were sorted by FACSAria (BD). Samples were placed at 37oC and 5% CO2 in IMDM plus 10% fetal calf serum for 30 minutes, then harvested, washed with 1X PBS, and ATAC-seq libraries were prepared. Quantitative PCR using the Library Quantitation kit (Kapa Biosystems) was used to estimate library concentrations. Libraries were sequenced on the Illumina HiSeq 2000 platform generating 2x150bp paired end reads at a sequencing depth of ~30-50 million reads per sample. Libraries were sequenced on the Illumina HiSeq 2000 platform.
2016-07-12 | GSE81805 | GEO
Project description:Whole Genome sequencing. 1 ug of genomic DNA from each lymph node sample was used for the construction of a TruSeq DNA PCR Free (350) library before sequencing in a Illumina HiSeq X Ten (2 × 151 bp). Mean coverage 30x.
| EGAD00001005423 | EGA
Project description:Chronic myeloid leukemia (CML) epitomizes successful targeted therapy, with 86% of patients in the chronic phase treated with tyrosine kinase inhibitors (TKIs) attaining remission. However, resistance to TKIs occurs during treatment, and patients with resistance to TKIs progress to the acute phase called Blast Crisis (BC), wherein the survival is restricted to 7-11 months. About 80 % of patients in BC are unresponsive to TKIs. This issue can be addressed by identifying a molecular signature which can predict resistance in CML-CP prior to treatment as well as by delineating the molecular mechanism underlying resistance. Herein, we report genomic analysis of CML patients and imatinib-resistant K562 cell line to achieve the same. WGS was performed on imatinib-sensitive and -resistant K562 cells. Library preparation was done by 30x WGS KAPA PCR-Free v2.1 kit, and Illumina HiSeq X sequencer was used for 2 x 150 bp paired-end sequencing. Our study identified accumulation of aberrations on chromosomes 1, 3, 7, 16 and 22 as predictive of occurrence of resistance. Further, recurrent amplification in chromosomal region 8q11.2-12.1 was detected in highly resistant K562 cells as well as CML patients. The genes present in this region were analyzed to understand molecular mechanism of imatinib resistance.
2024-01-01 | E-MTAB-11896 | biostudies-arrayexpress
Project description:<p>We have deeply sequenced total RNA and whole exome of six different post-mortem human snap-frozen tissues (brain, liver, lung, striated muscle, kidney, heart) from three unrelated healthy Caucasian individuals (males, aged 47-54) with the aim to characterize post-transcriptional events due to alternative splicing and RNA editing. In addition, to facilitate the detection of RNA editing sites we have also resequenced the entire genome of each individual. Data are also used to investigate tissue-specific abundance of mitochondrial DNA from exomes and its correlation with mitochondrial transcription, mass and respiratory activity.</p> <p>Tissues were obtained from Cureline (South San Francisco, CA, USA). DNA and RNA were purified using the DNeasy Blood and Tissue Kit (Qiagen, Hilden, Germany) and the RNeasy Plus Mini Kit (Qiagen, Hilden, Germany), respectively.</p> <p>Exome capture was performed using the TruSeq Exome Enrichment Kit (Illumina, San Diego, CA) and the sequencing was carried out at IGA Technology Services in Udine (Italy) on Illumina HiSeq 2000 (generating for each tissue approximately 40 millions of 100bp paired-end reads). </p> <p>Strand-oriented RNA reads (2x100bp) were generated using the TruSeq Stranded Total RNA Sample Prep Kit (Illumina, San Diego, CA, USA) and sequenced at IGA Technology Services in Udine (Italy) on Illumina HiSeq 2000 platform.</p> <p>Whole genome resequencing was performed at Personal Genomics in Italy on an Illumina HiSeq 2000 platform (2x100bp) with a mean coverage of 30X.</p> <p>MiRNA-Seq was instead performed at IBBE Institute (Italy) using the TruSeq Small RNA Sample Prep Kit on Illumina MiSeq platform.</p> <p>Preliminary bioinformatics analyses have been performed to check quality using FASTQC software and inconsistent read regions have been trimmed using trim_galore. All reads were mapped onto the human reference genome (version hg19) using GSNAP.</p>
| phs000870 | dbGaP
Project description:Purpose: The goal of this study is to compare the transcriptome profiling of SCF/2i expanded cells to freshly sorted hemtopoietic stem/progenitor cells (HSPCs) at single cell level. Methods: Mouse bone marrow HSPCs (HSC, MEP, CLP, CMP, GMP) and alive SCF/2i expanded cells were sorted by FACS. The FACS-sorted single cell suspensions were washed with ice cold 0.04% BSA in PBS, then loaded onto 3’ library chips as per the manufacturer’s protocol for the Chromium Single Cell 3’ Library (10X Genomics, V2). The 10× Genomics libraries were first sequenced on an Illumina NextSeq 500 aiming at a coverage of 5,000 raw reads per cell to estimate the cell numbers, before being sequenced deeper on an Illumina HiSeq 2500 aiming at a coverage of 50,000 raw reads per cell. (paired-end; read1: 26 cycles; i7 index: 8 cycles; read 2: 98 cycles). Raw sequencing data were pre-processed using the Cell Ranger pipeline (10× Genomics, v 2.1.0). The raw-count datasets from difference cell types were integrated and analyzed by Seurat3 R package. Results: tSNE plot showed that the transcriptome of SCF/2i cells overlapped with that of freshly sorted GMPs. The top 50 highly expressed genes from each comparison were used for analysis by heatmap, which showed that the SCF/2i cells shared a similar gene expression pattern with GMPs, but not other hematopoietic cell lineages. Conclusion: The SCF/2i expanded cells are GMPs.
2021-01-01 | GSE150344 | GEO
Project description:In principle, whole-genome sequencing (WGS) of the human genome even at low coverage offers higher resolution for genomic copy number variation (CNV) detection compared to array-based technologies, which is currently the first-tier approach in clinical cytogenetics. There are, however, obstacles in replacing array-based CNV detection with that of low-coverage WGS such as cost, turnaround time, and lack of systematic performance comparisons. With technological advances in WGS in terms of library preparation, instrument platforms, and data analysis algorithms, obstacles imposed by cost and turnaround time are fading. However, a systematic performance comparison between array and low-coverage WGS-based CNV detection has yet to be performed. Here, we compared the CNV detection capabilities between WGS (short-insert, 3kb-, and 5kb-mate-pair libraries) at 1X, 3X, and 5X coverages and standardly used high-resolution arrays in the genome of 1000-Genomes-Project CEU genome NA12878. CNV detection was performed using standard analysis methods, and the results were then compared to a list of Gold Standard NA12878 CNVs distilled from the 1000-Genomes Project. Overall, low-coverage WGS is able to detect drastically more (approximately 5 fold more on average) Gold Standard CNVs compared to arrays and is accompanied with fewer CNV calls without secondary validation. Furthermore, we also show that WGS (at ≥1X coverage) is able to detect all seven validated deletions larger than 100 kb in the NA12878 genome whereas only one of such deletions is detected in most arrays. Finally, we show that the much larger 15 Mbp Cri-du-chat deletion can be clearly seen at even 1X coverage from short-insert WGS.
2018-06-26 | GSE105092 | GEO