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• Lobular Carcinomas In Situ Display Intra-Lesion Genetic Heterogeneity and Clonal Evolution in the Progression to Invasive Disease

  This study comprises prospectively accrued, microdissected fresh frozen samples of multifocal lobular carcinoma in situ (LCIS), ductal carcinoma in situ (DCIS), invasive lobular carcinoma and invasive ductal carcinoma from patients undergoing prophylactic or therapeutic mastectomies after a diagnosis on LCIS diagnosed and managed at Memorial Sloan Kettering Cancer Center (MSKCC). Microdissected samples were subjected to paired-end whole exome sequencing on an Illumina HiSeq 2000. The data generated were used to define the landscape of somatic genetic alterations of LCIS, DCIS, invasive lobular carcinoma and invasive ductal carcinoma, to define clonal relatedness of these lesions and to investigate the clonal shifts in the progression from in situ to invasive breast cancer.

  Study phs001006

• BLUEPRINT Gene expression analysis during human B-cell differentiation using the Affymetrix Human Genome U219 Array

  We performed gene expression analysis using the Affymetrix Human Genome U219 Array of 9 subpopulations covering the complete B-cell maturation program: hematopoietic progenitor cells (HPC); pre-B-I cells (preB1C); pre-B-II cells (preB2C); naive B cells from peripheral blood (naiBC); naive B cells from tonsil (t-naiBC); germinal center B cells (gcBC); plasma cells from tonsil (t-PC); memory B cells from peripheral blood (memBC) and plasma cells from bone marrow (bm-PC). All the samples were isolated from healthy donors and, with the exception of bm-PC (only 1 replicate), we used 3 to 11 biological replicates of each subtype.

  Study EGAS00001001197

• The genotype of LAM disease

  Tumor biopsies from LAM disease were retrospectively analyzed by multiple techniques to characterize the alterations in patients ,to elucidate the landscape of genetic/genomic alterations.

  Dataset EGAD00010001689

• Chromosome X Mosaicism Methylation Study

  This study investigates methylation patterns in promoter regions on the X chromosomes of females with X chromosome mosaicism in an effort to phase mosaic events to either the active or inactive X chromosome.

  Study phs001112

• Establishment of iPS cells from Japanese healthy volunteers

  We performed whole exome sequencing of Japanese volunteers. We established iPSCs from those volunteers, and the iPSCs were deposited to Riken Bioresource Bank. The whole exome sequencing were performed using their PBMCs.

  Study JGAS000287

• Identification of phenotype-modifier genes

  Patients were stratified at the extremes of the renal phenotype according to their estimated glomerular filtration rate annual decline and subjected to whole exome sequencing (WES) aiming to find candidate phenotype-modifier genes.

  Study EGAS50000000829

• Genome-Wide Bisulfite Sequencing of Urinary Cell-Free DNA

  The current sequencing dataset consists of 85 bisulfite sequencing data files (Fastq files) of human cell-free urine DNA samples. These extracted cfDNA samples were then constructed into DNA libraries using the KAPA HTP Library Preparation Kit (Kapa Biosystems) with bisulfite modification using the EpiTect Bisulfite Kit (Qiagen) and subsequently sequenced on the Nextseq500 platform (Illumina).

  Dataset EGAD50000001902

• Results of RNA sequencing from all patients/samples

  Results of sequencing the targeted RNA-seq panel of breast cancer patients and controls. This dataset comprises of FASTQ files of 295 samples (both breast cancer patients and controls) and the results of mapping the FASTQ files to the reference human genome (hg38) available in a form of raw gene expression matrix.

  Dataset EGAD50000000017

• RCC_HTA2.0_Reustle2022

  GeneChip HTA 2.0 data of primary renal cell carcinoma (RCC) related to Reustle et al., Clin Transl Med 12:2022 e883. Microarrays were normalized individually using the SCAN method from the R package SCAN.UPC (version 2.26.0, R version 3.6.1). Probe sets were summarized on the Entrez GeneID level using the annotation provided by BrainArray (version 23).

  Dataset EGAD00010002352

• Whole Exome Sequences from Iberian Roma samples

  Study of high-depth Roma whole exomes to analyse the impact of complex demography on the functional genomic variation. This study also includes genome-wide array data of Iberian Roma individuals

  Study EGAS00001004599

• RNA_Seq_OMELib__Cord_blood_

  The transcriptional landscape of haematopoietic cells will be characterized by RNA Seq following amplification of RNA/cDNA and preparation of libraries by PTA(primary template-directed amplification). Samples have been sourced from the Cambridge Biobank.

  Study EGAS00001007454

• Congenital anosmia 2

  Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). Here we obtained genomic DNA from families with multiple individuals with anosmia, suggesting they are congenital. These include those inherited in a manner consistent with dominant and recessive alleles. We have sequenced the exomes of both affected and unaffected family members on the Illumina platform.

  Dataset EGAD00001002228

• B and T Cell Determinants of Influenza Vaccine Responses in the Elderly

  The study sequenced antibody heavy chain gene rearrangements from human subjects receiving influenza vaccination.

  Study phs000666

• Bleomycin Induced Pneumonitis cohort of Exceptional Responders Program

  This DAC handles access to data from the Bleomycin Induced Pneumonitis cohort of the Exceptional Responders Program of the Garvan Institute of Medical Research (https://www.garvan.org.au/research/collaboration/exceptional-responders-program)

  Dac EGAC50000000791

• Targeted MCC-seq

  The capture panel targets the functional methylome in human whole blood. Regions incorporated in the panel design included hypomethylated windows generated from merged WGBS data.

  Dataset EGAD50000000286

• Targeting the bicarbonate transporter SLC4A4 overcomes immunosuppression and immunotherapy resistance in pancreatic cancer

  Targeting the bicarbonate transporter SLC4A4 overcomes immunosuppression and immunotherapy resistance in pancreatic cancer

  Study EGAS00001006334

• Identification Of Pathogenic Mutations And Application Of Polygenic Risk Scores In Early-Onset Diabetes Patients

  Maturity-onset Diabetes of the Young (MODY) presents a diagnostic challenge. In this study we investigate the genetic background of Latvian early-onset diabetes patients, using whole-genome sequencing data. Additionally, we investigate the utility of previously published and available type 1 diabetes (T1D) and type 2 diabetes (T2D) polygenic risk scores in differentiating monogenic diabetes (MODY) from T1D and T2D cases.

  Study EGAS50000000991

• Reproducibility of variant calls in replicate next generation sequencing experiments

  In this study, we examined the reproducibility of nucleotide variant calls in replicate sequencing experiments of the same genomic DNA. We performed targeted sequencing of all known human protein kinase genes (kinome) (~3.3 Mb) using the SOLiD v4 platform. Seventeen breast cancer samples were sequenced in duplicate (n=14) or triplicate (n=3) to assess concordance of all calls and single nucleotide variant (SNV) calls.

  Study EGAS00001000826

• Whole_Genome_sequencing_of_individuals_from_Val_Borbera__Italy

  This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.

  Study EGAS00001000458

• Splenic_Marginal_Zone_Lymphoma_with_villous_lymphocytes_exome_sequencing

  Agilent whole exome hybridisation capture will be performed on genomic DNA derived from ~3 Splenic Marginal Zone Lymphoma with villous lymphocytes samples and matched normal DNA from the same patients. Samples will be multiplexed in one lane of Illumina HiSeq. Sequencing to a coverage of at least 30x will be performed and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes.

  Study EGAS00001000139

• Inferring tumor genomes from peripheral blood i.e. CTCs and plasma-DNA using deep sequencing and targeted enrichment

  In this study we tested whether complex tumor genomes can be inferred from the peripheral blood (plasma DNA /CTCs) of 32 patients with stage IV colorectal carcinoma (CRC). To establish the percentage of mutated plasma DNA fragments we used 8 patient samples with different plasma DNA size distributions and KRAS mutations in their corresponding primary tumors and employed ultra-deep pyrosequencing with 3 different sequencing reaction sizes (i.e., 119 bp, 168 bp, and 323 bp). Furthermore, we used massive parallel sequencing of a panel of 68 CRC-associated genes to establish the mutation spectrum of cancer driver genes in the primary tumors, metastases, and CTCs of two colorectal cancer patients. To investigate, whether mutations found in only one CTC (“private CTC mutations”) are true mutations occurring with allele frequencies below the resolution limits of current detection methods, or whether they are amplification or sequencing artifacts, we performed ultra-deep sequencing of the primary tumors, metastases, plasma DNAs and normal tissues.

  Study EGAS00001000337

• Identification of the cause of juvenile parkinsonism in a case_SYNJ1

  This study aimed to elucidate the genetic causes underlying the Juvenile Parkinsonism diagnosed in a girl using whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification. As a result, a homozygous missense mutation SNP T/C (rs2254562) in SYNJ1 and alteration in metabolism were identified.

  Study EGAS00001007686

• Spatio-temporal evolution of the primary glioblastoma genome (newly added after 2015)

  Since our genomic analysis of 38 GBM patients, we recruited more cases to further study spatial and temporal evolution of glioblastoma with international collaboration of multiple institutes. The cases in this study includes the whole exome and transcriptome of GBM patients newly recruited in Samsung Medical Center.

  Study EGAS00001001800

• Evaluating the immune response in treatment-naive hospitalised patients with influenza and COVID-19

  Clinical characteristics and peripheral blood were acquired upon hospital admission from two well characterised cohorts, a cohort of patients infected with influenza and a cohort of patients infected with SARS-CoV-2 during the first wave of the pandemic and prior to availability of COVID-19 treatments and vaccines.

  Study EGAS00001005971

• Clonal Evolution and Transcriptional Plasticity Shape Metastatic Dissemination Routes in Prostate Cancer

  This study provides comprehensive insights into the genetic and transcriptomic landscape of prostate cancer, highlighting significant clonal heterogeneity, transcriptional plasticity, and metastatic spread patterns. We examined the clonal evolution and metastatic dissemination of prostate cancer by integrating single-nuclei RNA sequencing (snRNA-seq) and low-pass whole-genome sequencing (WGS) data from 43 spatially distinct tumour samples in five patients with locally advanced disease. By reconstructing the evolutionary trajectories of each tumour, we identified distinct patterns of tumour evolution, including both monophyletic and polyphyletic metastatic dissemination, as well as ongoing primary tumour clonal evolution after metastatic spread. We observed converging changes leading to metastatic potential, such as androgen receptor independence and increased activity in the estrogen, WNT, and JAK/STAT pathways in identified seeding areas. These findings enhance our understanding of the disease's progression and may inform future therapeutic strategies.

  Study EGAS50000000927

• Heterogeneous Genomic Evolution and Immune Microenvironments in Metastatic Lung Cancer

  The mechanism underlying the occurrence of lung cancer metastasis to different tissues/organs remains elusive. We investigated the genomic evolution and immune microenvironments of paired primary-metastatic tumors by employing multi-region whole-exome sequencing in 179 samples of 106 tumors from 51 lung cancer patients and subsequent immunohistochemistry assays in 70 of them. Our data revealed differences in genomic landscapes, molecular determinants, evolutionary dynamics, and lymphocyte infiltration among different metastatic sites. We demonstrated commonly late arising of metastatic seeding of lung cancer with quantitative evidence. Most distant metastases originated from independent origins of earlier lymph node spreads. Immune-heterogeneity and -homogeneity were primarily driven by arm-level and focal copy number events in primary tumors, respectively. These findings implied the combinatorial role of multiple factors in shaping patterns of dissemination and advanced the clinical evaluation and intervention of lung cancer metastasis.

  Study EGAS00001004228

• Team

  The Team Mallory Freeberg Roderic Guigó Arcadi Navarro Helen Parkinson Jordi Rambla Ana T. Alonso Silvia Bahena Àlex Bedmar Kenneth Buckley Aldar Cabrelles Ángel Carreño Marcos Casado Giulia Cellerino Amy Curwin Teresa D'Altri Abeer Fadda Teresa Garcia Sara Gregorio Max Fischer Bela Juhasz Oriol Lopez-Doriga Mireia Marin Óscar Martínez Andrea Mero Akiris Moctezuma Aurora Moreno Liina Nagirnaja Francesc de Puig Santiago Rensonnet Gabriele Rinck Aravind Sankar Andres Silva Coline Thomas Sabela de la Torre Gemma Vicente The EGA Team at the CRG co-manages the European Genome and phenome Archive together with the EGA Team at the European Bioinformatics Institute. In addition to maintaining and distributing data, we enrich the contents of the EGA contributing with our knowledge about genomics and the relationship between genomes and phenomes. Previous Team Members Alexander Vikhorev Jeff Almeida-King Mario Alberich Sergi Aguilo Pablo Arce Minjie Ding Alfred Gil Leslie Glass Jag Kandasamy Vasudev Kumanduri llkka Lapalainen Audald Lloret i Villas Sira Martinez Anand Mohan Dietmar Orth Justin Paschall Saif Ur Rehman Gary Saunders Thomas Smith Ashutosh Shimpi Marc Sitges Dhvani Solanki Giselle Kerry Nino Spataro Dylan Spalding Matthieu Vizuete-Forster Cristina Yenyxe Gonzalez Garcia Paul Flicek Anna Foix Emilio Garcia Rios Jorge Izquierdo Roberto Ariosa Marta Ferri Peradalta Daniel Barrowdale Babita Singh Umuthan Uyan Aleix Canalda Dona Shaju Mauricio Moldes Carles Garcia Frédéric Haziza Alegria Aclan Lauren Fromont Alvis Brazma Marta Huertas Arnau Soler Gemma Milla Claudia Vasallo Aina Jené Csaba Halmagyi Raül Garcia Thomas Keane Mei Gascón

  Documentation about/team

• Patient-derived xenograft models of head and neck cancers

  Establishment and characterization of two patient-derived xenograft models from HNSCC patients , initiatlly treatment-naive, and for which cetuximab-acquired resistant model couterparts have been generated. All models have been characterized at genomic level. HNSCC tissues were obtained from surgical resections at Cliniques universitaires St Luc in Brussels (Belgium).

  Dac EGAC50000000502

• Dac for "ARHGAP11A Maintains Cortical Progenitor Identity Through RHOA–ROCK Signalling During Human Brain Development" with Julia.ladewig@zi-mannheim.de, Department of Translational Brain Research. Moritz Mall, m.mall@dkfz-heidelberg.de, German Cancer Research Center (DKFZ). Yannick Hass, yannick.hass@zi-mannheim.de, Department of Translational Brain Research. Anne Hoffrichter, anne.hoffrichter@zi-mannheim.de, Department of Translational Brain Research, Central Institute of Mental Health

  Dac EGAC00001003603

• Single-cell RNA-sequencing for peripheral blood mononuclear cells from COVID-19 patients and healthy controls of Japanese

  We performed single-cell RNA-sequencing of peripheral blood mononuclear cells obtained from COVID-19 patients and healthy controls.

  Study JGAS000593

• Single-cell RNA-sequencing for peripheral blood mononuclear cells from COVID-19 patients and healthy controls of Japanese

  We performed single-cell RNA-sequencing of peripheral blood mononuclear cells obtained from COVID-19 patients and healthy controls.

  Study JGAS000543

• WGS of 11 MPNSTs, 7 ANNUBPs and 7 blood and normal tissue controls

  Whole-genome sequencing (WGS) of 11 MPNSTs, 7 ANNUBPs and 7 controls (6 blood and 1 normal tissue) sequenced for Magallon-Lorenz, 2026. Sequenced at BGI with DNBseq technology (2x150bp) following standard protocols. Raw fastq files provided.

  Dataset EGAD50000002492

• cfDNA sWGS BAM — Metastatic colorectal cancer

  Plasma cirDNA sWGS for metastatic colorectal adenocarcinoma at diagnosis prior to systemic therapy. Libraries DSP/SSP (per sample). Sequencing by IntegraGen (2022–2024). Alignment: GRCh38 with BWA-MEM; BAMs sorted/indexed; delivered as primary mapped reads only (filters/MAPQ in analysis metadata). Controlled access

  Dataset EGAD50000001879

• ctDNA sample level analysis

  This table summarizes Guardant 360 ctDNA variant summary statistics including frequency of variant types for each sample included in this analysis.

  Dataset EGAD50000001341

• Single-cell sequencing of PBMC & CSF in neuroinflammatory disorders

  Single-cell sequencing and genotyping for Cambridge samples analyzed as part of a project evaluating single-cell gene expression & lymphocyte receptor sequences in CSF and PBMC of MS and other neuroinflammatory disorders.

  Dataset EGAD50000001023

• TRACERx NSCLC - whole genome sequencing for ctDNA study

  Data used in "An ultra-sensitive and specific ctDNA assay provides novel pre-operative disease stratification in early stage lung adenocarcinoma"

  Dataset EGAD50000000452

• H3Africa ACEGID Omni 2.5M and 5M Genotype

  SNP Genotyping for Lassa Fever cases and population controls from Nigeria and Sierra Leone using Illumina Omni 2.5M and 5M

  Dataset EGAD00010002509

• H3Africa ACEGID Array Phenotype

  Phenotype data for Lassa Fever cases and population controls from Nigeria and Sierra Leone associated with genotype data generated using Illumina H3Africa array version 1.

  Dataset EGAD00001010923

• H3Africa ACEGID Omni Array Phenotype

  Phenotype data for Lassa Fever cases and population controls from Nigeria and Sierra Leone associated with genotype data generated using Illumina Omni 2.5M and 5M.

  Dataset EGAD00001010922

• BLUEPRINT September 2016, ATAC-seq Mantle Cell Lymphoma from venous blood, on Genome GRCh38

  ATAC-seq data for 5 sample(s) Mantle Cell Lymphoma from venous blood, on Genome GRCh38. 5 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002918

• BLUEPRINT September 2016, ATAC-seq Chronic Lymphocytic Leukemia from venous blood, on Genome GRCh38

  ATAC-seq data for 106 sample(s) Chronic Lymphocytic Leukemia from venous blood, on Genome GRCh38. 111 run(s), 109 experiment(s), 109 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002916

• Genomic Landscape of Chordoid Glioma

  This data set consist genomic information of 10 Chordoid Glioma samples: - Exome sequencing: 10 tumors and matched normal DNA for four of them (BAM files) - RNAseq : 10 tumors (fastq files) - CNV array: 9 tumors (IDAT files)

  Dataset EGAD00001004112

• Integrative genomic study of CML patients

  This dataset contains WES and RNA-Seq fastq files for 65 CML patient samples at various stages of disease progression.

  Dataset EGAD00001004179

• Epigentic sequence data of monocytes and macrophages

  Data for paper: Epigenetic dynamics of monocyte to macrophage differentiation with Chip Seq, NOMe, mRNA, total RNA, noncoding RNA, whole genome bisulfite seq,

  Dataset EGAD00001002201

• Single cell RNA sequencing of tumor and ascites in high grade ovarian cancer

  Fastq files for single cell RNA sequencing of cells from ovarian cancer tumor and ascites (10X chromium 5' v1.1 libraries). Multiple cases are pooled in each sequencing library.

  Dataset EGAD00001006627

• Fecal 16S rRNA gene sequencing

  Human fecal 16S rRNA gene sequencing data from patients treated with combined anti-CTLA-4 and anti-PD-1 immunotherapy for advanced melanoma.

  Dataset EGAD00001006735

• CASCADE Metastatic Melanoma Rapid Autopsy sequencing data

  Sequence data (paired-end FASTQ format) for 209 samples from 73 sample sites, from 7 individuals. Samples include primary melanomas, metastatic tumours and ctDNA

  Dataset EGAD00001006867

• SMRT-seq

  In this study, we enhanced 5mC detection using SMRT sequencing by holistically analyzing kinetic signals of a DNA polymerase and sequence context for every base within a measurement window. We employed a convolutional neural network to train a methylation classification model.

  Dataset EGAD00001006875

• Ampliseq library database

  This database contains 46 samples for early stage ovarian high grade serous carcinoma project. Amplicon sequencing on 37 tumour samples from early stage ovarian high grade serous carcinoma as well as 5 adjacent normal tissue samples and 4 whole blood samples.

  Dataset EGAD00001008587

• Immune single-cell profiling of human chronic inflammatory skin disease

  This dataset includes 10X Genomics 3' single cell-RNA-seq profiles from 24 human rashes and 7 healthy controls. BAM files are provided for each sample.

  Dataset EGAD00001008624

• Transcriptome Analysis of CLL patient samples

  This dataset includes Illumina RNA Sequencing Data for 59 chronic lymphocytic leukemia patient samples. 57 samples are single end, 2 samples are paired end sequencing.

  Dataset EGAD00001008320

• CBD-RAW-RNASEQ: Bulk RNAseq data

  Bulk RNAseq data from whole blood. For further information regarding this dataset, please contact Katie Burnham and Andew Kwok at contact@combat.ox.ac.uk.

  Dataset EGAD00001007957

• CBD-RAW-SC-ATAC: 10X Single-Cell ATAC

  Raw Illumina sequencing data from single-cell ATACSeq experiments. For further information regarding this dataset, please contact Julian Knight and Tatjana Sauka-Spengler at contact@combat.ox.ac.uk.

  Dataset EGAD00001007963

• CBD-RAW-SC-VDJ-B: 10X Single-Cell VDJ BCR

  Raw Illumina sequencing data. For further information regarding this dataset, please contact Rachael Bashford-Rogers at contact@combat.ox.ac.uk.

  Dataset EGAD00001007964

• Long-read sequencing for cell-free DNA analysis (human)

  31 pregnant women at different trimesters, 6 hepatitis B carriers, and 8 patients with hepatocellular carcinoma

  Dataset EGAD00001008980

• CITE-Seq (Cellular Indexing of Transcriptomes and Epitopes by Sequencing) of CLL_24

  To explore intratumor-heterogeneity of CLL_24 using single-cell multi-omics approach, we generated single-cell CITE-seq data for CLL_24, coupling scRNA-seq and protein surface marker measurements with oligo-tagged antibodies.

  Dataset EGAD00001009174

• Raw count matrix for 418 baseline samples

  Count matrix from 418 pre-treatment (Ven-Obi or Clb-Obi) CD19+ B cells

  Dataset EGAD00001009501

• Exploration of neuroblastoma xenograft models for tumor extracellular RNA profiling in murine blood plasma

  Total RNA sequencing (SMARTer Stranded Total RNA-Seq Kit v2) data of extracellular RNA (exRNA) from liquid biopsies of neuroblastoma xenograft models.

  Dataset EGAD00001010905

• Sequencing data for oesophageal / related samples - Foley, Shorthouse et al (RNA)

  Data supporting: "SMAD4 and KCNQ3 Alterations are Associated with Lymph Node Metastases in Oesophageal Adenocarcinoma" RNAseq (FASTQ files) 6 samples

  Dataset EGAD00001011065

• Exome sequencing data for 40 cases of alopecia areata and vitiligo

  Sequencing of independent unrelated cases of alopecia areata (total/ universal) and vitiligo (>10%, affected family member). DNA obtained from blood

  Study EGAS00001003831

• Evaluation of the ERa binding region activity in breast and endometrial cancer

  Evaluate the activity of ERa binding site activity in breast and endometrial cancer.

  Study EGAS50000000009

• Targeted sequencing of genomics regions of interest in depression and obesity

  Data corresponding to the fastq of the 654 individuals included in the study.

  Dataset EGAD50000000476

• Flemish_Gut_Flora_Project_phenotype

  Here, we studied well-phenotyped individuals from the Flemish Gut Flora Project (FGFP, N=1,106, Belgium) and the effect of environments on microbiome. The 69 major significant phenotypes found in this study are provided.

  Dataset EGAD00001001943

• The genotype of LAM disease

  Tumor biopsies from LAM disease were retrospectively analyzed by multiple techniques to characterize the alterations in patients ,to elucidate the landscape of genetic/genomic alterations.

  Dataset EGAD00001005363

• Somatic evolution in the non-neoplastic IBD affected colon

  Whole genome and whole exome sequencing data supporting the manuscript 'Somatic evolution in the non-neoplastic IBD affected colon' by Sigurgeir Olafsson et al.

  Dataset EGAD00001006061

• Picuris Pueblo oral history and genomics reveal continuity in US Southwest

  Following the decision of Picuris Pueblo to study their population history using DNA, this project generated 16 ancient and 13 present-day genomes from the Pueblo, spanning 1,000 years of history.

  Study EGAS50000000855

• Synthetic - GDI synthetic dataset (Population 11 Finland, Subgroup 2)

  Synthetic - This dataset contains the pheno-clinical and genomic information of 42046 individuals from COVID Population 11 Finland, Subgroup 2. 2010 are affected by Phenotype 1, 2010 are affected by Phenotype 2, 188 are affected by Phenotype 1 and 2, and 37838 are control. The dataset also contains the information about the smoking habits of each individual.

  Dataset EGAD50000000955

• Transcriptome_Sequencing_of_Cancer_Cell_Lines

  In this study we will sequence the transcriptome of Verified Cancer Cell lines. 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 EGAS00001000261

• RNA sequencing of high hyperdiploid and ETV6/RUNX1-positive pediatric acute lymphoblastic leukemia

  We performed RNA-sequencing of high hyperdiploid and ETV6/RUNX1-positive ALL cases by using the Human Ribo-Zero rRNA Removal Kit to investigate the gene expression in high hyperdiploid ALL.

  Study EGAS00001003079

• Targeted DNA sequencing on 37 Merkel Cell Carcinomas from New Zealand with known Merkel cell polyomavirus status

  To determine the genomic landscape of NZ virus-negative MCCs (VN-MCC), assess genomic evolution in metastases, and catalogue the distribution of TP53 and RB1 variants from international studies.

  Study EGAS00001006873

• 25 metastatic cutaneous squamous cell carcinoma WGS VCF

  whole genome sequencing on lymph node metastases and blood DNA from 25 cSCC patients with regional metastases of the head and neck. We designed a multifaceted computational analysis at the whole genome level to provide a more comprehensive perspective of the genomic landscape of metastatic cSCC. This study contains the majority of 15 samples which are previously submitted in EGAC00001001100.

  Dataset EGAD00001009004

• Genetics and transcriptomes of pediatric B cell precursor leukemia with gain of chromosome 21

  Down syndrome (DS, constitutive trisomy 21) children have a 27-fold increased risk of developing B-ALL (DS-ALL), face a worse outcome due to treatment-related morbidities, and an increased rate of relapses compared to other children. This highlights the need to better understand the mechanisms of DS-associated leukemogenesis to develop more adapted treatment. In this study, we characterized the genetic and transcriptomic landscapes of DS-ALL and found a high incidence of somatic mutations leading to RAS/MAPK pathway activation in DS-ALL, as seen in other pediatric B-ALL presenting somatic gains of the chromosome 21 (B-ALL+21).

  Study EGAS00001003760

• WGS reads mapping within the IG loci

  Previously unpublished WGS reads mapping within the IG loci used in the benchmark of IgCaller.

  Dataset EGAD00001006032

• LBC1936 gvcfs

  1075 members of the LBC1936 were sequenced using the Illumina HiSeq X platform. This dataset contains the gvcfs.

  Dataset EGAD00001006414

• Sequencing data of the CTSC gene after WGS of samples from individuals with PLS

  The sequencing data of the CTSC gene after whole genome sequencing of blood samples from two individuals with Papillon-Lèfevre Syndrome.

  Dataset EGAD00001006961

• Mesothelioma of the peritoneum and Pseudomyxoma peritonei

  Mesothelioma of the peritoneum (n=21) and Pseudomyxoma peritonei/mucinous adenocarcinoma of the appendix (n=11)

  Dataset EGAD00001008826

• RNA, ATAC, ChIP datasets from Ankylosing Spondylitis patients and Healthy Controls

  This dataset consists of functional genomic data from 20 Ankylosing Spondylitis patients and 35 Healthy Controls taken from CD4+ T cells, CD8+ T cells and CD14 Monocytes. It contains 364 paired end fastq files consisting of 104 total RNA-seq samples and 116 ATAC samples, for ChIP there are 46 H3K4me3 samples, 46 H3K27ac samples and 3 H3K4me1 samples, along with 49 paired input samples. The samples were sequenced on Illumina HiSeq4000, Illumina NextSeq500 and Illumina NovaSeq 6000 platforms.

  Dataset EGAD00001008758

• Genomic analysis for intrahepatic cholangiocarcinoma

  Intrahepatic cholangiocarcinomas (iCCs) are characterized by their rarity, difficulty in diagnosis, and overall poor prognosis. We performed comprehensive genomic characterization of treatment-naive iCC. This study reports a large-scale genomic analysis of iCC. The findings could assist in patient stratification with iCCs and in developing rational therapeutic strategies.

  Dataset EGAD00001008557

• NuGen Targeted Sequencing of 574 DLBCL Cases of Non-China Cohort from Phoenix Clinical Trial

  NuGen 99-Gene-Panel Targeted Sequencing of 574 DLBCL Cases of Non-China Cohort from Phoenix Clinical Trial. Check the Associated Publication for More Experimental Details.

  Dataset EGAD00001008132

• A Multimodal Atlas of Human Brain Cell Types 2021 Data

  Human neocortical neurons display diverse morphology, physiology and gene expression profiles. We use a method called Patch-seq, where these three data modalities are assayed simultaneously from the same neuron, to understand how the genetic profile of human neocortical neuron types corresponds to their morphological and electrophysiological phenotypes. This dataset consists of transcriptome samples collected during Patch-seq recordings from layer 5 pyramidal neurons in the human middle temporal gyrus.

  Study phs002697

• Single-cell whole-genome sequencing reveals convergent evolution in Burkitt lymphoma

  This depository contains the raw BAM/CRAM files used in the manuscript "Single-cell whole-genome sequencing reveals convergent evolution in Burkitt lymphoma" Steemers et al. (2026). This includes: - 332 PTA-based single-cell WGS samples (~15X depth) - 7 bulk tumour samples (~30X depth) with matched germline samples (~30X depth) - 14 bulk tumour samples seqeunced by the Princess Maxima Centre diagnostics department (~105X depth) with matched germline samples (~35X depth)

  Study EGAS50000001681

• Broad utility of ultrasensitive analysis of ctDNA dynamics across solid tumors treated with immunotherapy

  Plasma ctDNA sequencing data from samples collected from a pan-cancer cohort of patients with advanced-stage disease treated with IO therapies. This study highlights the broader applicability of ultrasensitive ctDNA as a biomarker across cancer types and immunotherapy modalities. Here, we applied a whole-genome, tumor-informed approach to study ctDNA in 202 advanced-stage cancer patients treated at VHIO. This study captures the plasma sequencing data from the project.

  Study EGAS50000001271

• Whole genome sequencing of PDAC tissues an PDOs

  whole genome sequencing (WGS) on 48 PDOs (established from 39 tumors) and 4 tissues samples. The majority of PDOs were established from treatment-naive and localized tumors. Histopathologically, the majority of PDAC tumors from which PDOs were established displayed a conventional morphological pattern, with two containing squamous components (defined as adenosquamous), and one classified as a signet-ring tumour. 7 of the PDOs were grown in a culture medium lacking both WNT3A and RSPO1.

  Study EGAS50000000193

• ecDNA copy number heterogeneity

  Neuroblastoma exhibits significant inter- and intra-tumour genetic heterogeneity and varying clinical outcomes. Here, we used DNA and RNA sequencing from the same single cells in cell lines and neuroblastoma patients to investigate these effects. We reveal extensive intercellular ecDNA copy number heterogeneity. We also provide direct evidence of how this heterogeneity influences the expression of cargo genes, including MYCN and its downstream targets, and the overall transcriptional state of neuroblastoma cells.

  Study EGAS50000000509

• The_genomic_architecture_of_mesothelioma_

  The genome-wide landscape of somatically acquired mutations in mesothelioma has not been deeply characterised to date, but advances in DNA sequencing technology now allow this to be addressed comprehensively. Harnessing massively parallel DNA sequencing platforms, we will identify somatically acquired point mutations in all coding regions of the genome from patients with mesothelioma. In addition, using paired-end sequencing, we will map copy number changes and genomic rearrangements from the same patients.

  Study EGAS00001000353

• WGS and WES of pediatric osteosarcoma

  Despite being the most common childhood bone tumor, the genomic characterization of osteosarcoma remains incomplete. Very few metastatic cases have been sequenced to date, a required step to better understand the progression and evolution of this tumor. Here, we present an integrative analysis of whole genome and whole exome sequencing (WGS and WES) of a cohort of primary and metastatic pediatric osteosarcoma, in order to identify recurrent genomic alterations between and within patients.

  Study EGAS00001003342

• APCDR AGV Project: Whole genome sequencing of 3 African populations (curated data)

  The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. As part of the AGVP we sequenced 3 African populations; Baganda from Uganda (4x), Zulu from South Africa (4x), Gumuz, Wolayta, Oromo, Somali and Amhara from Ethiopia (8x).

  Study EGAS00001000960

• Possible DNA damage after paternal exposure to ionizing radiation in radar technicians

  Effects of accidental and prolonged radiation exposure on the human germline remain a topic of medical interest. Transgenerational signatures of ionizing radiation exposure are primarily implicated to be clustered de-novo mutations (cDNMs, multiple de-novo mutations within 20bp). We sequenced the whole genome of 110 children from 70 families (Radar cohort). The father in this cohort were exposed to 0-353mSv of ionizing radiation and serve as exposed samples.

  Study EGAS00001007321

• RNAseq data

  RNAseq FASTq files from 797 tumors from AVANT. Sequencing libraries were generated with the TruSeq Stranded Total RNA kit (Illumina) following ribosomal RNA (rRNA) depletion with the Ribo-Zero Gold kit (Illumina). The libraries were sequenced on the HiSeq4000 (Illumina) with a sequencing protocol of 75 bp paired-end sequencing. Note: 10 samples used in the original publication were excluded from this upload due to regulations from the Human Genetics Resources Administration of China (HGRAC).

  Dataset EGAD00001009728

• RODAM

  The RODAM study assesses the health and wellbeing of Ghanaian residents in Ghana and Europe and follows them up over time. With this unique approach the RODAM study attempts to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants sub-Saharan Africa. Data are available upon reasonable request. These requests can be made to de RODAM-Pros cohort coordinator (rodamcoordinator@amsterdamumc.nl) or principal investigator, Professor Charles Agyemang (c.o.agyemang@amsterdamumc.nl).

  Dac EGAC50000000474

• human placenta snRNA-seq (n=12)

  This dataset include the snRNA-seq raw sequencing files from the placentas of 4 normal weight control and 8 obese individuals. The files are paired-end fastq files. The snRNA-seq libraries were generated with Chromium Single Cell 3’ kit v3.1 (10X Genomics) and sequenced on Illumina NovaSeq 6000 at Novogene, UK.

  Dataset EGAD50000001222

• Discovery_of_resistance_mechanisms_to_the_BRAF_inhibitor_vemurafenib_in_metastatic_BRAF_mutant_melanoma

  Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma by massively-parallel sequencing of tumour samples. Comparison of genomic characteristics of pretreatment ‘sensitive’ to recurrence ‘resistant’ tumours to identify the genetics of drug resistance.

  Study EGAS00001000551

• Mutational_burden_in_oesophagus_following_chemotherapy_and_radiotherapy_treatment_WGS

  We wish to assess the changes in signature and mutational burden in patients who have undergone either chemotherapy or chemotherapy + radiotherapy. Using duplex sequencing will assess the mutational landscape in oesophageal epithelia in patients who have undergone these treatment regimes.

  Study EGAS00001007415

• G3BP2-KIT drives leukemia amenable to kinase inhibition in Ph-like ALL

  We describe a patient with Ph-like ALL, in which leukemic cells harbored an in-frame fusion between the GTPase-activating protein (SH3 domain)-binding protein 2 (G3BP2) and the KIT proto-oncogene.

  Study EGAS00001005181

• INDIA

  We collected PBMCs from 10 Indian and 10 Dutch individuals before BCG vaccination and 10-12 post-vaccination. We assessed the open chromatin profiles under baseline conditions, and the transcriptomic profiles upon stimulation with Influenza and SARS-CoV-2.

  Study EGAS00001006417

• Single-cell atlas of the human healthy airways

  Single cell atlas of human airways from 10 healthy volunteers by 10X Genomics 3’ RNA-seq profiling. 77,969 cells were collected by bronchoscopy at 35 distinct locations, from the nose to the 12th division of the airway tree, either by forceps (46,791 cells), or brush biopsies (31,178 cells).

  Dataset EGAD00001005714

• Whole exome sequencing data of Hispanic hepatocellular carcinoma

  The paired-end reads were aligned to the human reference genome (hg19) with decoy sequences (as used in the 1000 Genomes Project) using BWA (v0.7.5a) software. The duplicate reads were marked and subsequently removed using Picard (v1.140) (https://broadinstitute.github.io/picard/) and SAMtools (v0.1.19), respectively. Local realignment around insertions/deletions (indels) and base quality recalibration were performed using GATK (v3.6).

  Dataset EGAD00001011158

• WGS of gastric cancer in the Japanese population (81 gastric cancers of NCC)

  As a contribution to The International Cancer Genome Consortium Accelerating Research in Genomic Oncology (ICGC ARGO), whole-genome sequencing of 81 cases from Japanese gastric cancer with various histological subtypes has been conducted. This study aims to reveal the landscape of structural variants (SV) in gastric cancer and analyze mutational and rearrangement signatures simultaneously

  Study EGAS00001006051

• Columbia Alzheimer's sample (white matter)

  The Columbia Alzheimer’s dataset (white matter) consists of 24 white matter individuals (12 controls, 12 cases). A total of 12,000 estimated cells from each sample were loaded on the 10x Single Cell Next GEM G Chip. cDNA libraries were prepared using the Chromium Single Cell 3’ Library and Gel Bead v3 kit according to the manufacturer’s instructions. cDNA libraries were sequenced using the Illumina NovaSeq 6000 System and NovaSeq 6000 S2 Reagent Kit v1.5 (100 cycles), aiming at a sequencing depth of minimum 30K reads/nucleus.

  Dataset EGAD00001009168

• BELOB: Ribo-minus RNA-seq data corresponding to 96x GBM samples from the BELOB trial.

  Ribo-minus RNA-seq data corresponding to 96x GBM samples from the BELOB trial.

  Study EGAS00001004570