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• Bulk ATACseq 7days - Calprotectin in vitro effects on human early hematopoiesis

  To explore the effects of calprotectin (CAL) on early hematopoiesis, we incubated CD34+ cells from four healthy donors for 7 days in the presence of stem cell factor (SCF), FLT3-ligand and thrombopoietin (TPO) without and with CAL, interleukin-6 (IL6) and the IL6_CAL combination before collecting cells. We performed the same experiment with CD34+ cells collected from three patients with JAK2-V617F-mediated myelofibrosis (MF). A total of 135,545 cells from healthy donors and 111,725 cells from myelofibrosis patients were analyzed by single-cell RNA sequencing (scRNA-seq) using the 10X Chromium droplet-based platform. Bulk ATACseq 7days - Normal and tumor samples 4 conditons : -Control - Calprotectin - IL-6 - Calprotectin+IL-6

  Study EGAS50000000456

• HIPSD&R-seq enables scalable genomic copy number and transcriptome profiling

  Single-cell DNA-sequencing (scDNA-seq) enables decoding somatic cancer variation. Existing methods are hampered by low throughput or cannot be combined with transcriptome sequencing in the same cell. We propose HIPSD&R-seq (HIgh-throughPut Single-cell Dna and Rna-seq), a scalable yet simple and accessible assay to profile low-coverage DNA and RNA in thousands of cells in parallel. Our approach builds on a modification of the 10X Genomics platform for scATAC and multiome profiling. In applications to human cell models and primary tissue, we demonstrate the feasibility to detect rare clones and we combine the assay with combinatorial indexing to profile over 17,000 cells.

  Study EGAS50000000691

• comparing the snRNA-seq from placentas of mothers with or without obesity

  Obesity poses risks to maternal health and increases the likelihood of short- and long-term adverse pregnancy outcomes in the offspring. The placenta, a key organ at the maternal-fetal interface, responds to maternal obesity and regulates fetal growth. To investigate the molecular features of physiological adaptation, we perform single-nuclei RNA-seq on human placentas and compared the transcriptomic profiles of women with obesity delivering appropriate- or large-for-gestational age (i.e., AGA and LGA) babies with those from normal-weight healthy controls with AGA babies. The snRNA-seq libraries were generated with Chromium Single Cell 3’ kit v3.1 (10X Genomics) and sequenced on Illumina NovaSeq 6000 at Novogene.

  Study EGAS50000000834

• Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

  Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing.

  Study EGAS00001000287

• Multiple Myeloma treated with anti-BCMA T-cell-redirecting therapy (1st Batch)

  Bone marrow samples were collected from patients treated with either anti-BCMA CART and/or anti-BCMA TCE. All samples were sorted using the StemCell EasySep Human CD138 positive selection kit II (StemCell, Cambridge, MA). The positive CD138+ were submitted for WGS, using peripheral blood mononuclear cells as normal matched. WGS was carried out by the Molecular Genomics Core Facility at Moffitt Cancer Center contingent on the availability of high-quality pre-treatment samples. Germline DNA was obtained from peripheral blood mononuclear cells, while tumor DNA was extracted from CD138-enriched bone marrow aspirate specimens using magnetic bead-based selection. Genomic DNA was isolated using the AllPrep DNA/RNA/miRNA Universal Kit (Qiagen). For library preparation, 100 ng of genomic DNA was fragmented using the Covaris ML230 focused ultrasonicator (Covaris, Inc.), followed by library construction with the TruSeq DNA Nano Library Prep Kit (Illumina) in accordance with manufacturer instructions. Library quality and fragment size distribution were assessed via Agilent TapeStation, and quantification was performed using the Kapa Library Quantification Kit (Roche). Sequencing was conducted on the Illumina NovaSeq 6000 system using S4-300 reagent kits with a 2×150 bp paired-end configuration. Tumor samples were sequenced to a median coverage of 60×, and matched germline controls to 30×. Reference Genome: GRCh38.

  Dataset EGAD50000002632

• A95724A

  Whole genome sequencing for single cells for library A95724A 503 samples; filetype=bam

  Dataset EGAD00001008229

• A95724B

  Whole genome sequencing for single cells for library A95724B 581 samples; filetype=bam

  Dataset EGAD00001008230

• A96146A

  Whole genome sequencing for single cells for library A96146A 1195 samples; filetype=bam

  Dataset EGAD00001008233

• A96149B

  Whole genome sequencing for single cells for library A96149B 1792 samples; filetype=bam

  Dataset EGAD00001008235

• A96162B

  Whole genome sequencing for single cells for library A96162B 1316 samples; filetype=bam

  Dataset EGAD00001008238

• A96172A

  Whole genome sequencing for single cells for library A96172A 1476 samples; filetype=bam

  Dataset EGAD00001008240

• A96172B

  Whole genome sequencing for single cells for library A96172B 1694 samples; filetype=bam

  Dataset EGAD00001008241

• A96175C

  Whole genome sequencing for single cells for library A96175C 1473 samples; filetype=bam

  Dataset EGAD00001008243

• A96179B

  Whole genome sequencing for single cells for library A96179B 1396 samples; filetype=bam

  Dataset EGAD00001008245

• A96180B

  Whole genome sequencing for single cells for library A96180B 1189 samples; filetype=bam

  Dataset EGAD00001008246

• A96183C

  Whole genome sequencing for single cells for library A96183C 1036 samples; filetype=bam

  Dataset EGAD00001008247

• A96184A

  Whole genome sequencing for single cells for library A96184A 1733 samples; filetype=bam

  Dataset EGAD00001008248

• A96186A

  Whole genome sequencing for single cells for library A96186A 850 samples; filetype=bam

  Dataset EGAD00001008249

• A96186C

  Whole genome sequencing for single cells for library A96186C 525 samples; filetype=bam

  Dataset EGAD00001008250

• A96199B

  Whole genome sequencing for single cells for library A96199B 1170 samples; filetype=bam

  Dataset EGAD00001008251

• A96201A

  Whole genome sequencing for single cells for library A96201A 536 samples; filetype=bam

  Dataset EGAD00001008252

• A96205A

  Whole genome sequencing for single cells for library A96205A 1907 samples; filetype=bam

  Dataset EGAD00001008253

• A96210C

  Whole genome sequencing for single cells for library A96210C 1191 samples; filetype=bam

  Dataset EGAD00001008254

• A96211C

  Whole genome sequencing for single cells for library A96211C 1397 samples; filetype=bam

  Dataset EGAD00001008255

• A96215A

  Whole genome sequencing for single cells for library A96215A 1312 samples; filetype=bam

  Dataset EGAD00001008256