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• 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

• Whole transcriptome sequencing of pediatric T-cell acute lymphoblastic leukemia

  Pediatric T-cell acute lymphoblastic leukemia (T-ALL) is rare and its pathogenesis is poorly understood. To investigate molecular basis of pediatric T-ALL, we performed whole transcriptome sequencing in 123 cases of pediatric T-ALL.

  Study JGAS000090

• Whole-exome sequencing of pediatric solid tumors

  Pediatric solid tumors are rare, whose pathogenesis is poorly understood. To investigate the genetic basis of pediatric solid tumors, we performed whole exome sequencing in 16 rhabdmyosarcoma (RMS) cases and 7 pleuropulmonary blastoma (PPB) cases.

  Study JGAS000036

• Control sets genotyped with Dynal RELI SSO and Roche Molecular Systems platfroms

  HLA typing on subjects in WTCCC and T1DGC GWA studies using Dynal RELI SSO assays (Invitrogen, Paisley, UK), sequence-specific oligonucleotide probe-based method and line strips from Roche Molecular Systems (Alameda, CA, USA)

  Study EGAS00000000032

• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017

• MEMORI WES bams

  This project stores bam files from deep whole exome sequencing from oesophageal adenocarcinoma at different timepoints during neoadjuvant treatment (prior, during, post treatment), which were used to analyse evolutionary and phenotype dynamics in oesophageal adenocarcinoma during neoadjuvant treatment.

  Study EGAS50000000240

• Transcriptome of periadrenal and subcutaneous fat in patients with hyperaldosteronism in comparison to patients with non-functional adenomas

  This study analyzed subcutaneous fat (SCF) and periadrenal fat (PAF) from patients with aldosterone-producing adenomas (APAs) and, as controls, non-functional adrenal adenomas (NFA) (SCF, n = 7; PAF, n = 5).

  Study EGAS50000001095

• Comparison of the single-cell and single-nucleus hepatic myeloid landscape within decompensated cirrhosis patients

  In-patient comparison of single-cell RNA-sequencing (scRNA-seq) and single-nucleus (snRNA-seq) technologies and accompanying tissue processing protocols on transjugular liver biopsy from decompensated cirrhosis patients (n = 3).

  Study EGAS50000000073

• Predictors of Immune Checkpoint Blockade Response in dMMR Colorectal Cancer Using an Integrated Immune-Enhanced Multi-Omics Platform

  To identify candidate tumor- and immune-related biomarkers associated with clinical outcomes following anti–PD-1 therapy in dMMR colorectal cancer, we conducted a comprehensive genomic profiling using ImmunoID NeXT platform, including whole exome, whole transcriptome and TCR/BCR sequencing.

  Dataset EGAD50000002504

• Raw sequencing data from low-input chromosome conformation capture in CD4+ T cells

  This dataset contains raw sequencing data from low-input PCHi-C in human primary CD4+ T cells isolated from healthy donors. The data are released as paired-end Illumina FASTQ files. Promoter Capture Hi-C used DpnII digestion and Tn5-based low-input library preparation, followed by targeted capture with custom-designed biotinylated RNA probes targeting most of the annotated gene promoters.

  Dataset EGAD50000001873

• Transcriptome data of periadrenal and subcutaneous fat in patients with hyperaldosteronism in comparison to patients with non-functional adenomas

  We analyzed subcutaneous adipose tissue (scAT) and periadrenal adipose tissue (paAT) from patients with Aldosterone-Producing Adenomas (APA) and, as controls, non-functional adrenal adenomas (NFA). RNA sequencing and immunohistochemistry of AT was performed (IHC, only on scAT). IHC markers included adipokines (leptin, adiponectin) and transcription factors (eg, c-jun, CaMKII)

  Dataset EGAD50000001590

• 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

• Metagenomic characterization of tracheal aspirates from non-pulmonary sepsis patients

  Metagenomic characterization of tracheal aspirates from non-pulmonary sepsis patients. This dataset consists of non-human read data from shotgun sequencing in sepsis case samples from lung aspirates. The dataset consist of 32 paired FASTQ files sequenced in paired-read mode 2x150 bp using an Illumina HiSeq 4000 sequencer.

  Dataset EGAD50000000561

• Tumor Profiler Project - MEL scRNA data

  The dataset contains 10x Chromium single-cell transcriptomics data from 65 samples from 62 different patients with melanoma. Samples were collected from the tumor. Sequencing was performed in paired-end mode and sequencing data is provided in fastq format.

  Dataset EGAD50000000853

• Tumor Profiler Project - MEL scDNA data

  The dataset contains 10x Chromium single-cell DNA sequencing data from 63 samples from 60 different patients with melanoma. Samples were collected from the tumor. Sequencing was performed in paired-end mode and sequencing data is provided in fastq format.

  Dataset EGAD50000000852

• Tumor Profiler Project - AML scDNA data

  The dataset contains single-cell DNA seq data from 21 patients with Acute Myeloid Leukemia (AML). Samples were collected from bone marrow or blood. Sequencing was performed in paired-end mode and sequencing data is provided in fastq format.

  Dataset EGAD50000000824

• Tumor Profiler Project - AML scRNA data

  The dataset contains single-cell RNA seq data from 23 patients with Acute Myeloid Leukemia (AML). Samples were collected from bone marrow or blood. Sequencing was performed in paired-end mode and sequencing data is provided in fastq format.

  Dataset EGAD50000000823

• Tumor Profiler Project - AML bulk transcriptomics data

  The dataset contains bulk transcriptomics data from 23 patients with Acute Myeloid Leukemia (AML). Samples were collected from bone marrow or blood. Sequencing was performed in paired-end mode and sequencing data is provided in fastq format.

  Dataset EGAD50000000822

• 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.

  Dataset EGAD00001000707

• RNA sequencing data of pediatric hypodiploid acute lymphoblastic leukemia

  The dataset includes RNA sequencing FASTQ files from a diagnostic tumor sample of one hypodiploid ALL patient (ALLT-351). NEBNext Ultra Directional RNA Library Prep Kit (New England Biolabs) was used in library preparation, and Ribo-Zero Magnetic Kit (Illumina) was utilized in rRNA removal. The diagnostic tumor sample was sequenced using Illumina Novaseq 6000, and the target sequencing depth was 21 Gb.

  Dataset EGAD50000002605

• Shwachman_Diamond_syndrome__SDS___Exome_sequencing

  Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.

  Study EGAS00001000264

• Breast Cancer PDTX Encyclopaedia

  Molecular data from the collection of PDTX breast cancer models described in Bruna et al, 2016. Cell. It includes whole exome sequencing, shallow whole genome sequencing, expression arrays and reduced bisulfite representation sequencing (RRBS).

  Study EGAS00001001913

• Genomic characterization of NUT midline carcinoma

  In this study, we sequenced two NUT midline carcinoma genomes. Analysis of rearrangement breakpoint provided information on the generating event of BRD-NUT rearrangements. Mutational signature analysis also revealed biological process during tumorigenesis of NUT midline carcinomas.

  Study EGAS00001001934

• ChIP-seq data of Hodgkin lymphoma cell line L-428

  ChIP-seq data (H3K4Me3, H3K27Ac histone modifications) of Hodgkin lymphoma cell line L-428. Samples were processed as previously described (Sud et al., 2018). The files are in bam format, aligned to build 37.

  Study EGAS00001003033

• Metastatic_Breast_Cancer_Whole_Genome

  We propose to definitively characterise the somatic genetics of Metastatic breast cancer through generation of comprehensive catalogues of somatic mutations in Metastatic breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000902

• BASIS_RNAseq

  We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000707

• The Druze analysis group

  To comprehensively characterize the genetic structure of the Druze population, we recruited and genotyped 40 parent-offspring trios from the Upper Galilee in Israel and the Golan Heights, attempting to capture different extended families (clans) across various geographical locations.

  Study EGAS00001000963

• Breast_Cancer_FRT_RNA_seq

  We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000420

• 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

• Breast_Cancer_Whole_Genome_Sequencing

  We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000210

• Triple_Negative_Breast_Cancer_RNA_Sequencing

  We propose to definitively characterise the somatic genetics of triple negative breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000377

• Blueprint RNAseq profile of purified plasma cells from multiple myeloma patients and tonsils of healthy donors

  In the context of an epigenomic study of multiple myeloma, a have generated RNAseq profiles of purified plasma cells from 11 multiple myeloma patients and tonsils of 4 healthy donors

  Study EGAS00001001110

• BLUEPRINT Epigenetic characterization of megakaryocytes and erythroblasts

  Megakaryocytes and erythroblasts derive from the same progenitor cell type but carry out very different functions. In order to understand how the different functional phenotypes arise we have characterised the epigenetic landscape of these cells.

  Study EGAS00001001641

• BCL11B enhancer hijacking defines a subtype of lineage ambiguous stem cell leukemia

  Hijacking of primitive hematopoietic enhancers, or generation of a neo-enhancer by genomic amplification, results in deregulation of BCL11B as the defining feature of a subset of T/myeloid leukemia

  Study EGAS00001004810

• Dedifferentiated_Melanoma

  De- and transdifferentiation of melanoma is a rare histopathological phenomenon that has not be characterised genetically. In this project we plan to sequence the genomes of de and transdifferentiated cases so as to define their genetic make-up.

  Study EGAS00001003471

• Oliocapture sequencing libraries from the study "Histological Transformation and Progression in Follicular Lymphoma: a Clonal Evolution Study".

  Oliocapture sequencing libraries from the study "Histological Transformation and Progression in Follicular Lymphoma: a Clonal Evolution Study". These are sequencing libraries from the extension cohort of 277 patients. Specifically, there are 402 tumor libraries and 82 normal libraries.

  Dataset EGAD00001002898

• Whole exome sequencing (WES), shallow whole genome sequencing (sWGS), ultra-deep targeted sequencing (TS), RNA whole transcriptome sequencing (RNAseq), targeted TCR sequencing in RNA (RNA-TCRseq) from breast cancer samples.

  Whole exome sequencing (WES), shallow whole genome sequencing (sWGS), ultra-deep targeted sequencing (TS), RNA whole transcriptome sequencing (RNAseq) bam files. Targeted TCR sequencing in RNA (RNA-TCRseq) cram files.

  Dataset EGAD00001003933

• ChIP sequencing data to study therapeutic targeting of ependymoma

  This dataset contains ChIP sequencing data from 24 patients. ChIP of 5–10 mg flash-frozen primary ependymoma tumour was performed using 5 mg H3K27ac antibody per ChIP experiment. The enriched DNA has been sequenced on a Illumina HiSeq2000 instrument in paired-end mode. Up to two lanes per sample have been sequenced resulting in 70 Fastq files.

  Dataset EGAD00001003979

• A Single Complex Agpat2 Allele In A Patient With Partial Lipodystrophy data

  The dataset contains data from a single patient sample with partial lipodystrophy. The data is supplied in the form of 2 files. , a BAM file containing the (raw) sequencing data and a VCF file containing the called variants. The data is limited to a region consisting of the AGPAT2 gene on chromosome 9 and 1MB on both sides.

  Dataset EGAD00001004314

• TB-DAR Genotyping Study

  Active TB patients (sputum smear-positive and GeneXpert-positive) recruited at the Temeke District Hospital in Dar es Salaam, Tanzania, as part of a prospective study that ran between November 2013 and June 2022 (TB-DAR cohort).

  Study EGAS00001007216

• Molecular programs of melanoma brain metastases (MBM)

  We performed paired-end whole transcriptome sequencing of fresh frozen or intraoperative brain metastases of therapeutically treated stage IV melanoma patients. In addition, we analysed the epigenetic landscape of tumors usind Illumina 850k bead chip technology.

  Study EGAS00001005976

• RNA sequencing of paediatric glioblastoma in the ICGC PedBrain project

  RNA sequencing of paediatric glioblastoma in the ICGC PedBrain project

  Dataset EGAD00001001944

• Single nucleus RNA sequencing of isolated NK cells and CD56+ T cells from digested NSCLC tumor lesions

  In order to explore the intratumoral NK cell heterogeneity at a transcriptomic level, we performed matched single nucleus RNA sequencing of isolated CD45+CD3+CD56+ immune cells from 11 NSCLC patients.

  Study EGAS50000001189

• Single nucleus ATAC sequencing of isolated NK cells and CD56+ T cells from digested NSCLC tumor lesions

  In order to explore the intratumoral NK cell heterogeneity at an epigenetic level, we performed matched single nucleus ATAC sequencing of isolated CD45+CD3+CD56+ immune cells from 11 NSCLC patients.

  Study EGAS50000001190

• Dataset Gene-Breakpoint Panel

  In this study we analysed patients with metastatic prostate cancer to scan their tumor genomes noninvasively in plasma DNA. We enriched 1.3 Mbp of seven plasma DNAs (4 CRPC cases: CRPC1-3 and CRPC5; 3 CSPC cases: CSPC1-2 and CSPC4) including exonic sequences of 55 cancer genes and 38 introns of 18 genes, where fusion breakpoints have been described using Sure Select Custom DNA Kit.

  Dataset EGAD00001000365

• Poikiloderma syndrome RNAseq

  We will sequence the RNA of lymphoblast samples, transformed with EBV, which have poikiloderma syndrome with mutations in c16orf57. The aim of the experiment is to characterise RNA structural effects in this disease.

  Dataset EGAD00001000324

• Hepatitis B Viral sequence reads

  Deep sequencing of viral samples (average ~9,000x coverage) from patients chronically infected with Hepatitis B (HBV). Whole HBV genome sequencing of 1467 patients (1102 in discovery and 365 in validation cohort) chronically infected with HBV at baseline. The patient population contained HBV genotypes A (98), B (285), C (716), D (356), E (7), and F (5) with 977 HBeAg-positive and 490 HBeAg-negative patients.

  Dataset EGAD00001005075

• Transcriptome Changes in ASD (NRXN1α+/-) iPSC-derived neurons

  This dataset contains 10 fastq files from 10 cell lines (4 cell lines from 3 patients and 6 cell lines from 4 controls) that have undergone 50bp single end sequencing with PolyA enrichment strategy (BGI project number HUMpcsN). *please note one of the samples (Patient_4) was named in error and should be corrected to Patient_3 during analysis

  Dataset EGAD00001007993

• Bulk RNAseq data of scrambled and siRNA-mediated knock-down of the minor spliceosome snRNA U6atac

  Bulk RNAseq data of scrambled and siRNA-mediated knock-down of the minor spliceosome snRNA U6atac in androgen-sensitive LNCaP cells (L), androgen-insensitive C4-2 (C) and 22Rv1 (R) cells and in patient derived neuroendocrine organoids PM154 (P).

  Dataset EGAD00001008034

• PCBP1 splicing signature

  RNA-Seq from short-term lymphocyte cultures of 5 patients with pathogenic variants in PCBP1 and 49 controls with a neurodevelopmental disorder without variants in PCBP1. Library preparation of RNA-Seq: exome capture v8 (Agilent) - kit XT-HS2 on MAGNIS. Sequencing of 16 samples on a NextSeq550 (high output). Yield of 20 to 30M 75bp paired-reads per sample.

  Dataset EGAD50000002689