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• AfricanNeo aDNA Study

  With the largest genomic dataset to date of Bantu-speaking populations, including newly generated data of modern-day and ancient DNA from previously unsampled regions in Africa, we shed fresh light on the expansion of peoples speaking Bantu languages that started ~4000 years ago in western Africa. We have generated whole-genome sequences from 12 Late Iron Age individuals. Our comprehensive genetic analysis of the expansion of people speaking Bantu languages reveals a complex history of serial founder events, variable levels of contact with local groups, and spread-over-spread events.

  Study EGAS00001007519

• Smart-seq 2 single cell sequencing of CD4 and CD8 T cells from the blood and synovial fluid of 4 psoriatic arthritis patients.

  This dataset was used to characterise T cell gene expression and clonality at sites of active inflammation within the joints of psoriatic arthritis (PsA) patients, and to compare these results with T cells from the peripheral blood of those same patients. Freshly sorted CD45RA negative CD3+CD4+ and CD3+CD8+ single cells from four patients were individually flow sorted into 96-well full-skirted plates (Eppendorf) containing 10µL of a 2% Dithiothreitol (DTT, 2M Sigma-Aldrich), RTL lysis buffer (Qiagen) solution. Cell lysates were sealed, mixed and spun down before storing at -80 ºC. Paired-end multiplexed sequencing libraries were prepared following the Smart-seq 2 protocol using the Nextera XT DNA library prep kit (Illumina). A pool of barcoded libraries from four different plates were sequenced across two lanes on the Illumina HiSeq 2500.

  Dataset EGAD00001006342

• Myelodysplastic Syndrome Follow Up Series

  Agilent whole exome hybridisation capture was performed on genomic DNA derived from MDS and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to discover the prevalence of our findings using bespoke pulldown methods and sequencing the products from a larger set of patient DNA.

  Dataset EGAD00001000283

• Dysregulation of Naive T Cell Quiescence during Aging

  TEA-seq (novel trimodal single-cell analysis of mRNA transcripts, surface protein epitopes, and chromatin accessibility) was performed on CD3+ T cells isolated from peripheral blood of healthy pediatric (11–13 yrs, n = 8) and older adult (55–65 yrs, n = 8) female donors. Single-cell RNA sequencing (scRNA-seq) was additionally performed on peripheral blood mononuclear cells (PBMCs) from a healthy cohort of 16 pediatric, 16 young adult (25–35 yrs), and 16 older adult donors with equal sex distribution. Using these data, we dissected the compositional and molecular alterations within the T cell compartment across the spectrum of healthy age, showing broad transcriptional and epigenetic alterations within the T cell compartment of older adults compared to children, as well as a novel population of pediatric-specific CD8aa T cells.

  Study phs003400

• Investigating Genetics in Suspected Congenital Syndromes

  We employed forward and reverse genetics to identify individuals with heterozygous JAK1 variants associated with autoimmune and inflammatory diseases. We first recruited six unrelated probands and seven affected family members presenting with a range of autoimmune and inflammatory conditions. Whole exome sequencing revealed 4 different variants spanning all domains of the JAK1 protein: FERM domain (chr1: 64873438-G>A; c.415C>T; p.E139K), SH2 domain (chr1: 64855641-G>A; c.1516C>T; p.R506C), pseudokinase domain (chr1: 64845529-C>T; c.2099G>A; p.S700N, and kinase domain (chr1: 64838479-C>T; c.2953G>A; p.V985I). We then performed a systematic review of electronic health records of the BioME BioBank database and identified 43 additional individuals with at least one of these JAK1 variants. Comparing variant-positive and variant-negative individuals, our study revealed increased occurrences of autoimmunity, atopy, colitis, and dermatitis in patients harboring these JAK1 gain-of-function variants. We have deposited in dbGaP the whole exome sequencing files of the 43 patients identified in the BioME biobank, as well as their phenotype information.

  Study phs003453

• The Sys4MS cohort clinical data

  The Sys4MS cohort clinical data - 419 patients

  Dataset EGAD00001010867

• GWAS genotype data of the Japanese population

  GWAS genotype data of the Japanese population (N=2,380).

  Dataset EGAD00001009070

• Institute of Neuropathology - University of Freiburg Medical Center

  The Data Access Committee of the Institute of Neuropathology Freiburg.

  Dac EGAC50000000033

• Whole_Genome_Sequencing_of_INTERVAL

  Whole genome sequencing of participants from the INTERVAL study.

  Study EGAS00001001355

• GWAS data of the AlpeDPD study

  GWAS data of the AlpeDPD trail cohort

  Dataset EGAD00010002684

• Elucidation of the association between viruses and autoimmune diseases and COVID-19

  We determined the presence of endogenous human herpesvirus 6 (eHHV-6) and calculated anellovirus load from whole-genome sequencing data of 1,164 patients with COVID-19.

  Study JGAS000739

• The elucidation of molecular mechanisms of hematopoietic stem cells focusing on paroxysmal nocturnal hemoglobinuria (PNH)-type cells

  To elucidate the pathogenicity of aplastic anemia, we conducted exome seqence analysis in 5 patients with aplastic anemia with uniparental disomy in 6p.

  Study JGAS000094

• cytogenetically visibile inversions

  Pacbio Hifi whole genome sequencing data from six individuals carrying cytogenetically visible inversions. The HiFi data was produced on the PacBio Revio machine, using 1 flowcell per sample. The resulting data was aligned to hg19 using minimap2, and converted into bam using samtools.

  Dataset EGAD50000000635

• Genome-wide array data from Eivissan and Menorcan Individuals

  VCF file with autosomal genotypes from 22 and 20 Eivissan and Menorcan samples. Affymetrix Human Origins array was used to genotype the samples and the variants were lifted over to the hg38 human genome reference.

  Dataset EGAD50000000614

• Genotype-Multiple-Myeloma-case

  Genome-Wide Human SNP Array 6.0 or the CytoScan HD array, according to the manufacturer’s instructions (Affymetrix, Santa Clara, CA, USA) now part of Thermo Fisher Scientific (Thermo Fisher Scientific, Inc.)

  Dataset EGAD00010002102

• Single nucleus and in situ RNA sequencing reveals cell topographies in the human pancreas

  To investigate the cellular composition of the human pancreas, we performed single-nucleus sequencing from snap frozen biopsies of pancreata from adult, neonatal and diseased (chronic pancreatitis) human donors.

  Dataset EGAD00001006396

• Paired-end RNA-seq analysis of the 3D evolution of glioma cell populations. Part 1.

  Dataset includes 160 double-stranded RNAseq libraries collected from 16 patients with adult diffuse glioma. The majority of these samples were spatially-mapped during sample collection, enabling the genomic information derived from them to be mapped in 3D space.

  Dataset EGAD00001005222

• Comprehensive genetic analysis of Epstein-Barr virus-associated hematological malignancy

  Comprehensive genetic analyses including whole-exome sequencing, targeted sequencing, and whole-genome sequencing of the human genome and the Epstein-Barr virus (EBV) genome were performed to reveal the molecular pathogenesis of EBV-associated hematological malignancy.

  Dataset EGAD00001004286

• Delineate genomic and epigenomic changes in esophageal squamous cell carcinoma following radiotherapy

  We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy.

  Dataset EGAD00001003799

• Single cell mRNA sequencing of primary GBM - SF 10281

  We collected fresh tissue from an untreated GBM (SF10281) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells.

  Dataset EGAD00001003114

• Single cell mRNA sequencing of primary GBM - SF 10679

  We collected fresh tissue from an untreated GBM (SF10679) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells.

  Dataset EGAD00001003113

• Single cell mRNA sequencing of primary GBM - SF 10592

  We collected fresh tissue from an untreated GBM (SF10592) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells.

  Dataset EGAD00001003112

• CeDNN Data Access Committee UMCG

  Celiac Disease Northern Netherlands cohort, set up by the Genetics department of the University Medical Center Groningen (UMCG).

  Dac EGAC50000000584

• European Hereditary Tumour Group

  This DAC controls access to entries submitted to the European Hereditary Tumour Group datasets according to the EHTG policies.

  Dac EGAC50000000969

• Transcriptome of insulinomas

  Characterization of the transcriptome of insulinomas by RNA-seq.

  Study EGAS50000000320