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• EM-seq data from plasma cfDNA samples of ALS patients, control and C9-carriers

  This dataset contains targeted EM-seq data from 61 plasma cfDNA samples spanning 20 sporadic ALS, 10 C9orf72-ALS, 10 asymptomatic C9orf72 expansion carriers, and 21 non-disease controls. Libraries were prepared with the NEBNext Enzymatic Methyl-seq (EM-seq) kit, captured using the Twist Human Methylome Panel (3.98 M CpGs; 123 Mb), and sequenced on Illumina NovaSeq 6000 (150 bp paired-end; ~45× on-target depth) with unmethylated lambda DNA spike-in and a 20% PhiX balance library. The dataset includes per-sample gzipped FASTQ files (R1/R2) and minimal metadata.

  Dataset EGAD50000001808

• Immune Cell Atlas of Environmental and Ancestral Diversity in Indonesia [TCR]

  This dataset contains single-cell TCR, individually reference-aligned data from 203 individuals representing four Indonesian populations: the general urban population of Denpasar and the traditional community of Pedawa Village in Bali, as well as the traditional community of Yoboi Village (in Lake Sentani) and Sereh Village (individuals from highland Papua residing near Lake Sentani) in Papua. The dataset was produced as part of the Immune Cell Atlas of Environmental and Ancestral Diversity in Indonesia, a study aimed at characterizing how genetic background and environmental context shape immune cell states across diverse Indonesian communities.

  Dataset EGAD50000002383

• Immune Cell Atlas of Environmental and Ancestral Diversity in Indonesia [scRNAseq]

  This dataset contains single-cell RNA, individually reference-aligned data from 203 individuals representing four Indonesian populations: the general urban population of Denpasar and the traditional community of Pedawa Village in Bali, as well as the traditional community of Yoboi Village (in Lake Sentani) and Sereh Village (individuals from highland Papua residing near Lake Sentani) in Papua. The dataset was produced as part of the Immune Cell Atlas of Environmental and Ancestral Diversity in Indonesia, a study aimed at characterizing how genetic background and environmental context shape immune cell states across diverse Indonesian communities.

  Dataset EGAD50000002385

• mRNA and T cell receptor sequencing of patients with Pandemrix-associated narcolepsy type 1

  PBMCs isolated from 27 individuals (11 narcolepsy type 1 patients, 16 healthy controls) were stimulated with the peptide Neuroaminidase 175-189 or Protein-O-mannosyl transferase 1 (POMT1) 675-689 or media as control. FACS sorted CD4+ and CD8+ lymphocytes from one patient were subjected to the same stimulation. Transcriptome profiling was done with a 3' tagging protocol. T cell receptor repertoires were profiled with amplicon sequencing (Rep-seq). The dataset contains FASTQ files with sequencing reads, transcript count matrices and TCR clonotypes.

  Dataset EGAD00001006796

• Targeted Germline Sequencing of the Leeds Melanoma Cohort

  In this project we performed targeted sequencing of known and suspected melanoma susceptibility genes in a cohort of melanoma patients and matched controls. Our aim was to identify variants that predispose to melanoma development. The melanoma cases used in this study were population ascertained.

  Dataset EGAD00001007520

• Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

  The dataset comprises of seven samples described below 1. Muscle samples from three patients with late-onset PEO caused by compound heterozygous POLG variants M0305 POLG W748S/R1096C M1105 POLG A467T/T251I+P587L M1804 POLG A467T/X1240G+35aa 2. Muscle sample from a patient with adPEO with heterozygous TWNK variants M0230 TWNK p.Arg357Pro 3. Blood control samples from two patients with late-onset PEO caused by compound heterozygous POLG variants DNA2012-1630_S1 POLG W748S/R1096C DNA2018-0168_S2 POLG A467T/T251I+P587L 4. Muscle samples from healthy control individuals DNA2018-0172_S4 Healthy control 2 DNA2018-0173_S5 Healthy control 1

  Dataset EGAD00001004271

• Cell-free DNA and bone marrow samples from myelodysplastic syndromes

  We have assessed the molecular profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) using cfDNA and compared the results to paired bone marrow (BM) DNA.

  Dataset EGAD00001008567

• mRNA and T cell receptor sequencing of patients with Pandemrix-associated narcolepsy type 1

  PBMCs isolated from 27 individuals (11 narcolepsy type 1 patients, 16 healthy controls) were stimulated with the peptide Neuroaminidase 175-189 or Protein-O-mannosyl transferase 1 (POMT1) 675-689 or media as control. FACS sorted CD4+ and CD8+ lymphocytes from one patient were subjected to the same stimulation. Transcriptome profiling was done with a 3' tagging protocol. T cell receptor repertoires were profiled with amplicon sequencing (Rep-seq). The dataset contains FASTQ files with sequencing reads, transcript count matrices and TCR clonotypes.

  Dataset EGAD00001006797

• Blood plasma and FFPE derived total RNA seq dataset from DLBCL and PMBCL patients

  Blood plasma samples (n=168) and matched diagnostic formalin-fixed paraffin-embedded (FFPE) tissue samples (n=69) of DLBCL patients, PMBCL patients and healthy controls were collected between 2016-2021. Plasma samples were collected at diagnosis, at interim evaluation, after treatment, and in case of refractory or relapsed disease. RNA was extracted from 200 µl plasma using the miRNeasy serum/plasma kit and from FFPE tissue using the miRNeasy FFPE kit. RNA was subsequently sequenced on a NovaSeq 6000 instrument using the SMARTer Stranded Total RNA-seq pico v3 library preparation kit.

  Dataset EGAD00001011679

• RNA-seq of iPSC-derived hepatocyte-like cells

  We performed RNA-seq on polyA-enriched mRNA isolated from the original liver biopsy tissue (Liver tissue), primary liver cells (PLC), hepatocyte-like cells (HLCs) differentiated from induced pluripotent stem cells (iPSCs), and iPSCs. RNA libraries were prepared using the Illumina TruSeq Stranded mRNA Sample Preparation protocol (ref. RS-122-2101, Illumina, San Diego CA, US) and sequenced using the Illumina HiSeq2500 platform following the manufacturer’s protocol. Samples were sequenced in paired-end mode to a length of 2x76 base pairs. Images from the instrument were processed using the manufacturer’s software to generate FASTQ sequence files.

  Dataset EGAD00001003770