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• BIH COVID-19 airway single-cell, long-read RNA-seq

  We performed single-cell, long-read RNA-seq on nine nasopharyngeal swabs from patients hospitalized at Charite to study splicing alterations induced by SARS-CoV-2 infection. Additionally, three samples from healthy controls were included.

  Dac EGAC50000000757

• Repertoire sequencies from three different protocols

  This dataset contains sequencing data from Bulk RNAseq, PCR-based RepSeq and SMRT sequencing to compare immunoglobulin repertoire profiling strategies using matched human B-cell samples

  Dataset EGAD50000002217

• HV31 - MGI single-tube long fragment read (stLFR) linked-read sequencing

  MGI single-tube long fragment read (stLFR) linked-read sequencing data for individual HV31 generated using DNA from CD14+ monocytes, to a sequencing depth of ~51×.

  Dataset EGAD00001007045

• BIG MS Pilot

  Testing logistics and infrastructure of molecular screening program. Core biopsies taken from invasive recurrent or metastatic breast cancer to evaluate and identify molecular traits rendering them suitable for clinical trials

  Dataset EGAD00001000870

• Haplotype-specific assembly of shattered chromosomes in oesophageal adenocarciomas

  Genomic and epigenomic sequencing of 5 oesphageal adenocarciomas with evidence of chromothripsis. Genomic sequencing includes: Pacbio circular consensus sequencing, Pacbio continuous long read sequencing, 10X linked read and Illumia HiSeq X Ten sequencing. Epigenomic sequencing includes: Hi-C chromosome capture, ATAC-seq, ChIP seq (for H3K27ac, H3K4me3, H3K27me3 and CTCF) and long read RNA sequencing. All data types have the bam files which have not undergone haplotype resolution (demarcated as unresolved) and some data types also have haplotype resolved reads (demarcated as resolved).

  Dataset EGAD00001010871

• Melanoma PEACE Dataset

  Dataset for the initial melanoma PEACE paper in Cancer Discovery, March 2023.

  Dataset EGAD00001010877

• Whole Genome Sequencing of Waldenstrom's Macroglobulinemia

  Whole genome sequencing was conducted on 10 tumor/germline paired samples along with 20 additional unpaired tumor samples from patients with Waldesntrom's macroglobulinemia. Tumor lymphoplasmacytic lymphoma cells were obtained from CD19+ selected bone marrow mononuclear cells. Germline tissue was obtained from CD19 depleted peripheral blood mononuclear cells. High molecular weight DNA was then submitted for whole genome sequencing with Complete Genomics and aligned to HG19/NCBI human reference build 37.

  Study phs000740

• EASI-Genomics GM21886 Cell Line High Molecular Weight DNA Sequencing

  An interlaboratory study was performed with GM21886 cells to evaluate methods for high molecular weight (HMW) genomic DNA extraction and compare sample and sequencing QC metrics, and pipelines for structural variant (SV) calling. Four laboratories prepared HMW genomic DNA using four alternative extraction methods FireMonkey (Revolugen), Genomic Tip (QIAGEN), Nanobind (Circulomics), and Puregene (QIAGEN), followed by Short Read Elimination (Circulomics) and long-read sequencing with MinION and PromethION flowcells (Oxford Nanopore Technologies).

  Study phs003958

• An atlas of transcribed enhancers across helper T cell diversity for decoding human diseases

  At 5' ends of RNAs, there is a unique "cap signature" derived from a 7-methylguanosine cap. By leveraging this signature, we developed ReapTEC (read-level pre-filtering and transcribed enhancer call), a method for simultaneously profiling gene expression and enhancer activities using 5'-end single-cell RNA sequencing (5' scRNA-seq). We applied ReapTEC and single-nucleus ATAC-seq to a total of ~1 million single human CD4+ T cells.

  Study JGAS000689

• MGA-NUTM1 fusion in high grade spindle cell sarcoma

  Dac EGAC00001001074

• Clonal evolution in myelofibrosis during ruxolitinib therapy

  Study EGAS00001003829

• Validation of SNVs found in human iPS cells DAC

  Dac EGAC00001000091

• Fungal infection in neural tissue from amyotrophic lateral sclerosis.

  Dac EGAC00001000664

• DAC for study Hypothalamic transcriptome in Prader-Willi syndrome

  Dac EGAC00001000869

• DAC for study Non-coding RNAs in Breast Cancer

  Dac EGAC00001001090

• Plasma cells in coeliac disease Data Access Committee

  Dac EGAC00001001753

• IDIBAPS - Translational Research in Hepatic Oncology - Data Access Commitee

  Dac EGAC00001002069

• Molecular Characterization of HCC in Mongolia Data Access Commitee

  Dac EGAC00001002158

• Data access Commitee for anti-PD1 in HCC data

  Dac EGAC00001002404

• B cells in Multiple Sclerosis Data Access Committee

  Dac EGAC00001002476

• targeted sequencing in patients with HLH

  Dataset EGAD00001002278

• Experimental Therapeutics in Lymphoid Malignancies Data Access Commitee

  Dac EGAC00001003210

• BRCA-deficiency/HRD in individuals with HBOC

  Study EGAS00001007258

• JAK and STAT alterations in CD30 positive LPD

  Study EGAS00001004181

• Single cell sequencing in CNS autoimmune disease

  Study EGAS00001004449