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• GWAS membranous nephropathy Stanescu et al., 2011 UK cohort, chr2 region of interest, imputed

  334 biopsy-confirmed membranous nephropathy (MN) cases and 349 ethnically matched healthy controls: the British cohort of the Stanescu et al., 2011 GWAS. Genotyped and imputed region of interest on chromosome 2 (hg19 chr2:160500000-161500000), as used to determine Neanderthal introgression near the PLA2R1 MN risk locus (lead SNP: rs4664308).

  Study EGAS00001007700

• Cancer Genome Project Exome Sequencing

  Agilent whole exome hybridisation capture was performed on genomic DNA derived from cancer 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 re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products.

  Dataset EGAD00001000289

• Multi-omics analyses of airway host-microbe interactions in chronic obstructive pulmonary disease identify potential therapeutic interventions

  The mechanistic role of the airway microbiome in chronic obstructive pulmonary disease (COPD) remains largely unexplored. We present a landscape of airway microbe-host interactions in COPD through an in-depth profiling of the sputum metagenome, metabolome, host transcriptome and proteome from 99 COPD patients and 36 healthy individuals in China.

  Study EGAS00001006398

• Epi2Diag

  Genomic DNA was extracted from whole blood and bisulfite converted using the EZ DNA Methylation Lightning Kit (Zymo research). DNA methylation profile was then derived using Illumina’s Infinium EPIC array v2.0. in accordance with the manufacturer’s protocol at the ASGARD-Rouen genomic platform (Inserm U1245, University of Rouen and Rouen University Hospital, Rouen France) on an Illumina NextSeq550 scanner.

  Study EGAS00001008070

• TCR β-chain repertoire characterization of regulatory and conventional T cells in peripheral blood from breast cancer patients and healthy individuals.

  Identification of tumor-specific effects on peripheral TCRβ repertoire formation in humans, investigation of the clonal origin of regulatory T cells in breast cancer patients and impact analysis of the tumor-specific conversion of conventional T cells into induced regulatory T cells on the peripheral Treg repertoire in humans.

  Study EGAS00001002699

• Genomic profiling identified ERCC2 helicase domain mutations respond to platinum-based neoadjuvant therapy in urothelial bladder cancer

  Genomic profiling of tumours enables therapeutic decisions, and identifying drug-matched mutations will prolong survival and prognosis. Here, we generated a custom panel for detecting genetic alterations in 19 patients with urothelial bladder cancer. This panel targeted 71 genes associated with urological cancer. Targeted sequencing was performed on formalin-fixed paraffin-embedded tumour tissues. In this study, we revealed genome profiles and actionable mutations in patients with urothelial bladder cancer.

  Study JGAS000241

• Immune control of functional memory CD8 T cells in normal-appearing vitiligo skin

  This study aimed to characterize immune cell states in nonlesional (NL) and perilesional (PL) skin of patients with vitiligo using single-cell RNA sequencing. Shared CD8⁺ T cell clusters were detected in both regions, with PL-derived cells enriched for immune activation pathways and NL skin showed stronger infiltration of regulatory T cells. These findings reveal functional T cell heterogeneity in vitiligo and highlight regulatory mechanisms that may limit depigmentation in NL skin.

  Study EGAS50000001317

• Single-cell gene expression profiling of human iPSCs-derived cortical organoids

  To investigate the relationships between cerebral cortical organoid morphological characteristics and cellular composition, we morphologically classifi ed human iPSC-derived cortical organoids and analyzed the cellular makeup of each morphological type by single-cell gene expression profi ling.

  Study JGAS000726

• Low-coverage whole-sequencing of metastasised colorectal cancer samples treated with bevazicumab

  Low-coverage whole-genome sequencing (LC-WGS) was performed on tumor tissue, normal tissue and plasma samples collected from mCRC patients from the AC-ANGIOPREDICT Phase II trial (NCT01822444) and the University Medical Center Mannheim (UMM).

  Study EGAS50000000131

• Colorectal cancer functional annotation - MPRA

  We performed a Massively Parallel Reporter Assay (MPRA) in colorectal cancer (CRC) cell lines HT29 and SW403 and normal colon cell line HCEC-1CT. We specifically targeted the regions around the CRC GWAS loci to identify which variants alter transcription.

  Study EGAS50000000406

• Indonesian Genome Diversity Project 3

  Low coverage whole genome sequences were collected to study the population history in Eastern Indonesia, in particular Wallacea and Papua region. We have sequenced the genomes of 254 individuals from 12 Wallacean and 3 Papuan populations spanning this geographical region.

  Study EGAS50000000447

• Single-cell RNA-sequencing of CSF cells and PBMCs from individuals with neurological disorders

  We undertook single-cell RNA sequencing to establish gene expression and lymphocyte receptor sequences of CSF and peripheral blood leukocytes derived from patients with a variety of inflammatory, infectious and non-inflammatory neurological disorders. The aim of the study was the investigation of functional changes of the cells involved in neuroinflammatory responses.

  Dataset EGAD50000001173

• Matched_Pair_Cell_Line_Tumour_RNAseq

  In this study we will sequence the transcriptome of Verified Matched Pair Cancer Cell line tumour samples. This will be married up to whole exome and whole genome sequencing data to establish a full catalog of the variations and mutations found.

  Study EGAS00001000434

• Paroxysmal_Neurological_Disorders___rare_epilepsies

  We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

  Study EGAS00001000421

• Potent neutralizing antibodies against SARS-CoV-2

  The COVID-19 pandemic urgently needs therapeutic and prophylactic interventions. Here we report the rapid identification of SARS-CoV-2 neutralizing antibodies by high-throughput single-cell RNA and VDJ sequencing of antigen-enriched B cells from 60 convalescent patients.

  Study EGAS00001004412

• COIN CRC GWAS data

  Genotype data from the COIN and COIN-B trials of advanced/metastatic colorectal cancer. Data provided in plink format, and has been quality controlled. Control data used was from the WTCCC2 project National Blood Donors (NBS) Cohort (EGAD00000000024).

  Study EGAS00001005421

• Data Access Commitee for single-cell analysis of multiple myeloma and precursors

  Dac EGAC00001002920

• DAC for Integrated Genomic, Epigenetic, and Expression Analyses of Ovarian Cancer Cell Lines

  Dac EGAC00001001101

• Data access committee for Gut microbiome of BA patients and normal controls

  Dac EGAC00001002146

• "DAC for RNAseq from regions of insitu and invasive human mammary ductal disease"

  Dac EGAC00001002538

• DAC for Clonal driver neoantigen loss under EGFR TKI and immune selection pressures

  Dac EGAC00001003522

• Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: A case report

  This study involves whole genome sequencing of a 34-year-old male with a rare deficiency in complement component C1s, linked to systemic lupus erythematosus (SLE). Genomic analysis revealed two novel mutations in the C1S gene, resulting in absent C1s protein and impaired classical complement pathway function. The goal was to confirm the C1s deficiency and identify the specific mutations causing this condition.

  Study EGAS50000000707

• Whole exome sequencing of virus-associated HCC

  To understand comprehensive combinations of molecular alterations and seek for potential therapeutic targets/pathways in virus-associated HCC, we have conducted a whole exome sequencing (in-solution capturing all human coding exons) of 150 pairs of HCC cases.

  Study EGAS00001000389

• miRNAseq of paired FL and tFL samples

  This dataset contains miRNA-seq of paired FL and tFL samples (n=10 pairs) sequenced by Illumina NextSeq500. Libraries used in this miRNA-seq dataset were prepared with NEBNext Multiplex Small RNA Library Prep Set for Illumina (NEB,Catalog number: E7560S). RNAs used for library preparation were isolated from FFPE tissues using High Pure miRNA Isolation Kit (Roche,Catalog number: 05080576001). Data are uploaded as FASTQ format.

  Dataset EGAD50000001385

• WXS dataset of Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

  WXS dataset of Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

  Dataset EGAD00001015638

• RNA-seq dataset of Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

  RNA-seq dataset of Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

  Dataset EGAD00001015639

• 463 newly diagnosed patients with Multiple Myeloma underwent whole exome sequencing of tumour and peripheral blood DNA.

  463 newly diagnosed patients from the UK Myeloma XI clinical trial (NCT01554852) underwent whole exome sequencing plus targeted capture of the IGH/K/L and MYC loci. 200 ng of DNA were processed using NEBNext DNA library prepartion kit and hybridised to the SureSelect Human All Exon V5 Plus. Four samples were pooled and run on one lane of a HiSeq 2000 using 76-bp paired end reads. DNA from CD138+ selected bone marrow cells (myeloma tumour) as well as peripheral white blood cells were analysed and somatic mutations detected.

  Study EGAS00001001147

• IL-17 Signaling in Human iPSC-derived Midbrain Neurons in Parkinson's Disease

  To determine IL-17-induced global transcriptome changes in midbrain neurons derived from induced pluripotent stem cells (iPSC) from three sporadic Parkinson's disease (PD) patients and three age- and sex-machted controls, deep RNA sequencing (RNA-Seq) of IL-17-treated and untreated PD and control iPSC-dderived midbrain neurons was performed. Total RNA was isolated from untreated and IL-17-treated cells with the TruSeq RNA Sample Preparation Kit v2 (Illumina). RNA libraries were quantified using the KAPA SYBR FAST ABI Prism Library Quantification Kit (Kapa Biosystems) and cluster generation was performed on the cBot with the TruSeq SR Cluster Kit v3 (Illumina). The sequencing run was performed on a HiSeq 1000 instrument (Illumina) using the indexed, 50 cycles single read (SR) protocol and the TruSeq SBS v3 Kit (Illumina). Image analysis and base calling resulted in .bcl files that were then converted into .fastQ files by the CASAVA1.8.2 software. FastQ files were aligned to the human genome (hg19) using STAR.and annotated with gencode.v19. DESeq2 was used to determine differential expression. Criteria to determine significantly dysregulated genes were as follows: adjusted p-value below 0.05 and log2FC (fold change) of greater than one. Only genes with a mean expression value of greater than one RPKM (reads per kilobase per million mapped reads) throughout the dataset were considered. Control and PD samples were analyzed as two independent datasets. Upon IL-17 treatment only 17 genes were found to be dysregulated in controls but 125 genes were dysregulated in iPSC-derived midbrain neurons from PD patients. The 125 IL-17-dependent genes in PD iPSC-derived neurons separated the treated from untreated PD samples using an unsupervised, hierarchical clustering applying an Euclidean distance metric. More detailed study information can be found in Sommer A, Maxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Graef D, Eberhardt E, Riemenschneider MJ, Yeo GW, Kohl Z, Xiang W, Gage FH, Winkler J, Prots I, Winner B. Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease. Cell Stem Cell. 2018 Jul 5;23(1):123-131.e6. doi: 10.1016/j.stem.2018.06.015. PMID: 29979986

  Study phs001686

• Single Cell Sequencing of Medulloblastoma Samples

  This dataset contains the results of sequencing 9 samples (7 human/PDX, 2 cell lines) of medulloblastoma tumours (or 2 Neural Stem Cell lines). The data was collected to characterize the intratumour heterogeneity of chromothripsis in this tumour type. The 7 tumour samples underwent single cell DNA and RNA sequencing using the 10x CNVkit and 10xRNA protocols, and 1 of the tumour samples as well as the Neural Stem Cell lines underwent StrandSeq sequencing. All experiments were sequenced on Illumina sequencers. The provided files are paired-end fastq files from the sequencing experiments.

  Dataset EGAD50000000909

• Altered Blood and Keratinocyte microRNA/transfer RNA Fragment Profiles Related to Fibromyalgia Syndrome and its Severity

  We show dysregulated microRNA and tRNA fragment profiles related to FMS pathopyhsiology and opening new perspectives for FMS diagnostics and symptom monitoring. This dataset includes all sequencing raw files from whole blood (tempus tube) and keratinocyte sequencing.

  Dataset EGAD50000000900

• WGS, DuplexSeq and NanoSeq genomic data from histologically normal tissue in cancer patients

  The extent to which mutagenic and non-mutagenic processes, including cancer treatment, contribute to somatic evolution in histologically normal tissue remains unclear. We subjected 168 cancer-free normal samples representing 16 different organs from 22 patients with metastatic cancer enrolled in the PEACE research autopsy study to high-depth duplex panel sequencing (coverage >20,000x). In every sample we identified somatic mutations (range 170 - 2,978) at exceedingly low variant allele frequencies (median VAF 0.0000323), consistent with a patchwork of mutated cells in normal tissue. By analysing the mutational spectra of each sample, we extracted 16 distinct single base substitution mutational signatures, reflecting somatic mutational processes that have moulded the genomes of normal cells. Signatures were found to be associated with diverse aetiologies, including alcohol-related mutation acquisition in liver tissue, smoking-induced mutagenesis in lung and cardiac tissue, and multiple distinct treatment-induced processes, which correlated with treatment and its duration. On average, in this cohort in which patients had each received several lines of anti-cancer therapy, exogenous sources, including treatment-related mutagenesis, underpinned >40% of mutations in liver samples, yet <10% in brain samples. Finally, we observed clear differences in the extent and effects of selection in different tissues, with positive selection in certain tissues, including lung (TP53, EGFR and PIK3CA), liver (NF2L2) and spleen (BRAF, NOTCH2), and limited selection in others, such as brain and cardiac. Over 25% of driver mutations in normal tissue exposed to systemic anti-cancer therapy, including mutations in TP53, could be attributed to treatment-induced mutagenesis. Immunotherapy, while not associated with mutagenesis, was linked to an excess of driver mutations in PPM1D and TP53, illustrating how non-mutagenic treatment can sculpt somatic evolution. Our study reveals the rich tapestry of mutational processes and driver mutations in cancer-free normal tissue, and the profound impact of cancer therapeutic and life-time environmental exposures on normal tissue somatic evolution.

  Study EGAS00001008326

• Genomic Characterization of Pediatric Low-Grade Gliomas

  Pediatric low-grade gliomas (PLGGs) are the most common pediatric brain-tumor, with more than ten histologic subtypes recognized by the World Health Organization. We performed a genomic analysis of 230 PLGGs of which 73 had whole genome/RNA sequencing performed and show that MYB-QKI fusions define the seizure associated tumor, Angiocentric Glioma (AG). MYB-QKI fusions present in AGs contribute to tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression, and hemizygous loss of QKI, a tumor suppressor gene. Such interplay between three oncogenic mechanisms has diagnostic and therapeutic implications in AGs, and illustrates the functional complexity associated with rearrangements in cancer.

  Study phs001054

• Human periportal liver assembloids recapitulate periportal liver tissue in vitro

  In vitro expansion of human hepatocytes from fresh patient tissues has not yet been achieved, limiting the possibility of modelling liver composite structures in vitro. Here, we developed human hepatocyte organoids from patient-donors that sustain the long-term expansion of hepatocytes in vitro. We profiled them using RNAseq to determine their gene expression pattern and compared this with the original native fresh isolated liver cell. Then, we used them to generate periportal liver assembloids by combining them with portal mesenchyme and cholangiocyte organoids. By increasing the number of mesenchymal cells we obtained structures with a fibrotic ratio of portal mesenchyme and we performed scRNAseq analysis to determine their gene expression and cell-cell interactions.

  Study EGAS50000000994

• Swedish Bipolar Disorder exome sequencing (SWEBIC)

  This research project was a collaboration between the Karolinska Institute and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 5340 SWEBIC Bipolar case samples from collaborators in Sweden. Genomic DNA from each samples was sequenced to a mean depth of 20x. The exome used Twist capture and samples were sequenced on Illumina HiSeqX machines producing CRAM files.

  Dataset EGAD50000001123

• Whole-genome sequencing of the parental tumor and established organoids from a patient with gastric-type cervical adenocarcinoma

  This study aims to evaluate the genetic characteristics of patient-derived organoids established from gastric-type cervical adenocarcinoma and to assess their similarity to the parental tumors using whole-genome sequencing.

  Study JGAS000796

• Clinical and genetic analysis of a rare syndrome associated with neoteny

  We describe a novel syndrome in six patients with extreme developmental delay and the defining characteristic of neoteny. In an effort to discover any genetic causes of this syndrome whole genome sequence (WGS) analysis of the patients and their families was performed on Complete Genomics’ nanoarray platform.

  Study EGAS00001002419

• Impact of Chemotherapy on the Somatic Mutation Burden of Sperm and Other Tissues

  We applied high-fidelity duplex sequencing to 94 samples from 36 individuals exposed to diverse chemotherapies along with 32 controls. We found that in many of the sperm samples from men exposed to chemotherapy, the somatic mutation burden was elevated compared to controls as well as the expected burden based on trio studies. We then validated this finding using other tissues, and also found increased somatic mutation burden in the blood and liver of many subjects exposed to chemotherapy compared to unexposed controls.

  Study phs003476

• Alterations in the gut microbiome in inflammatory arthritis implicate key taxa and metabolic pathways across arthritis phenotypes

  The gut microbiome has been implicated in several inflammatory conditions, but large-scale metagenomic evaluations have not yet traced the routes by which immunity in the gut affects systemic inflammatory diseases, such as inflammatory arthritis. To characterize the community structure and associated functional processes driving gut microbial involvement in arthritis, we investigated a total of 440 stool shotgun metagenomes comprising 275 adults diagnosed with rheumatoid arthritis, ankylosing spondylitis, or psoriatic arthritis, along with 165 healthy control individuals and individuals with joint pain without an underlying inflammatory cause.

  Study EGAS00001005525

• Landscape of Intratumoral NK Cell and ILC in Head and Neck Squamous Cell Carcinoma

  In this study, total innate lymphoid cells (ILCs), including natural killer (NK) cells, were FACS-sorted from eight dissociated primary head and neck squamous cell carcinoma (HNSCC) tumors. In addition, ILCs and NK cells were sorted from peripheral blood of tumor patients. The ILCs and NK cells were analyzed by single-cell RNA sequencing (scRNA-seq) using the Smart-seq2 approach.

  Study phs002002

• SDH_deficient_renal_tumours___WGS_

  Succinate dehydrogenase (SDH) deficient renal cancers are a rare and understudied subtype of renal cancer. As such they represent an unmet need in kidney cancer research. Here, we seek to describe the genomics and transcriptomics of SDH deficient renal cancers by sequencing five such tumours. We document their mutational burden, define driver mutations, demonstrate typical patterns of structural variants, and estimate the cell of origin and cellular composition.

  Study EGAS00001004102

• Role of cohesin/CTCF in human monocyte differentiation

  Here we study genome architecture in a postmitotic differentiation setting, the differentiation of human blood monocytes (MO). We profiled and compared epigenetic, transcriptome and 3D conformation landscapes during MO differentiation (either into dendritic cells or macrophages) across the genome, with and without siRNA-mediated depletion of RD21 or CTCF, and detected numerous architectural changes, ranging from higher level compartments

  Study EGAS00001005508

• 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

• 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

• Deciphering the mutational landscape and the genome organization of LMS

  Leiomyosarcoma (LMS) are an uncommon group of malignant mesenchymal tumors composed of cells showing distinct smooth muscle differentiation. These tumors occur mainly in adults in any location of the body (soft-tissue, viscera or uterine). Soft-tissue LMS represent 10-15% of all soft-tissue sarcomas. The most frequent locations are the limbs followed by the retroperitoneum and uterine.

  Study EGAS00001001262

• CIRCLE-seq of PDAC PDO

  CIRCLE-seq was performed on a PDAC PDO to validate the presence and the structure of ecDNAs

  Study EGAS50000000194

• Effect_of_platinum_on_whole_blood_NanoSeq

  Whole-genome NanoSeq to assess the effect of platinum chemotherapy on the mutation burden and signatures found in whole blood.

  Study EGAS00001006454

• Colorectal cancer samples WES

  The whole exome was sequenced in two cancer-affected members (II:1 and III:1) of the family. The family subject of this study showed an autosomal dominant mode of CRC inheritance, fulfilling the Amsterdam I clinical criteria with three CRCs in two consecutive generations. The exome capture was performed using SureSelectXT Human All Exon V3 (51Mb, Agilent Technologies), and the library was sequenced on an Illumina HiSeq 2000 platform with paired-end reads of 101bp and a 50x average coverage depth.

  Dataset EGAD00001009170

• Ashkenazi Jewish Leukoencephalopathy

  Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities in the central nervous system (CNS). Patients affected with gLEs have brain white matter defects that can be seen in MRI and exhibit variable neurologic phenotypes including motor impairment, hypotonia, pyramidal dysfunction, dystonia and/or dyskinesias, ataxia, seizures, cortical blindness, optic atrophy, and impaired cognitive development. The exact causes in half of gLEs are unknown. We studied three unrelated families affected with an undiagnosed gLE and discovered a homozygous germline mutation c.2536T>G in VPS11 by whole exome sequencing, a gene involved in membrane trafficking and fusion of the lysosomes and endosomes, as a novel cause of a new gLE syndrome.

  Study EGAS00001001767

• National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Gabriella Miller Kids First Pediatric Research Program of the Pediatric Cardiac Genetics Consortium (PCGC)

  Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 300 probands and their parents, and family of interest collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD. This Kids First project represents a subset of the PCGC data. Other PCGC data can be accessed through phs001194 and other Kids First data can be accessed through kidsfirstdrc.org.

  Study phs001138

• Single-cell RNA sequencing of human omental tissue in benign and metastatic ovarian cancer

  To elucidate the cellular and molecular mechanisms underlying omental homeostasis and its transformation during ovarian cancer metastasis, a human omental cell atlas was generated encompassing both benign and metastatic conditions. Single-cell RNA sequencing was performed on freshly dissociated omental tissue samples from patients with newly diagnosed benign and malignant disease. Samples collected during diagnostic surgery covered distinct anatomical regions, enabling comparison between non-metastasized omentum and sites along the metastatic gradient, including distant, peritumoral, and tumor core areas.

  Study EGAS50000001465