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• Eribulin efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models

  Objectives: To determine the potential of anti-microtubule agent (AMA) therapy (paclitaxel, vinorelbine and eribulin) in platinum-resistant or refractory (PRR) HGSC by assessing response in patient-derived xenograft (PDX) models of HGSC. Approach:We characterized a cohort of PRR HGSC PDX models generated from treatment naïve or postsystemic therapy specimens, representative of individuals with PRR HGSC in the clinic. Whole-exome sequencing was carried out on five PDX tumours and whole-genome sequencing was carried out on one patient tumour.

  Study EGAS50000000152

• Spatial Profiling of Patient-Matched HER2 Positive Gastric Cancer Reveals Resistance Mechanisms to Trastuzumab and Trastuzumab Deruxtecan Sequencing

  HER2-positive gastric cancer (HER2+ GC) exhibits significant intra-tumoral heterogeneity and frequent development of resistance to HER2-targeted therapies. This study aimed to characterize the spatial tumor microenvironment (TME) and identify mechanisms of resistance to HER2 blockade including trastuzumab and trastuzumab deruxtecan (T-DXd) in HER2+ GC, with the goal of informing novel therapeutic strategies. We performed spatial transcriptomics on pre- and post-treatment samples from patients with HER2+ metastatic GC who received trastuzumab-based therapy.

  Study EGAS50000000636

• Nanopore Sequencing in adults with autism spectrum disorder (ASD) without intellectual disability

  Nanopore whole-genome sequencing was performed on DNA from peripheral blood samples of 10 individuals with ASD and 10 sex- and age-matched non-autistic controls (NC). DNA preparation and sequencing was performed according to the Oxford Nanopore Technologies (ONT; Oxford, UK) manual “Ligation Sequencing gDNA V14 - human sample (N50 30 kb) on PromethION (SQK-LSK114)” (version GDH_9174_v114_revF_10Nov2022) using ONT R10.4.1 PromethION flow cells. Sequencing was performed on an ONT PromethION 2 Solo using ONT MinKNOW software. Base and modification calling as well as alignment was performed with the ONT dorado basecalling software v0.5.3 using the model dna_r10.4.1_e8.2_400bps_hac@v4.2.0 and flag --modified-bases 5mCG_5hmCG with GenBank GCA_0000001405.15 (GRCh38) as reference sequence. This dataset contains the resulting modBAMs (.bam file format) sorted and indexed using samtools (Danecek et al., 2021) with indexes in bam.bai file format.

  Dataset EGAD50000002495

• Genome-wide association study of response to warfarin in a UK prospective cohort

  Genome-wide association study of Warfarin dosing in 714 British, recruited in Liverpool and Birmingham. Three phenotypes were investigated: warfarin mean dose, warfarin mean stable dose, and INR over 4 during first week of treatment. Stability was defined by at least three INR measurements within target in a three week period. The samples were genotyped on the Illumina 610K chip and imputed using Impute v2.1, with a combined filtered set composed of HapMap 3 release 2 and 1000 genomes pilot 1 CEU.

  Study EGAS00001001130

• Colorectal adenomas and carcinomas NKI-AvL TGO series Gut2009

  Colorectal cancer (CRC) develops from normal epithelium, through a benign precursor lesion called adenoma, by accumulation of genetic alterations affecting oncogenes and tumour suppressor genes. These CRC-related genomic alterations often result in specific RNA-expression patterns. RNA isolated from fresh frozen specimen of 32 adenomas and 29 CRCs was obtained from the previously published study (Carvalho et al. 2009) and RNA-sequencing was performed with the aim to examine RNA expression changes in colorectal adenoma-to-carcinoma progression.

  Study EGAS00001002758

• Mutations conferring differential treatment response in breast cancer

  Poor prognosis primary breast cancer patients usually receive cytotoxic chemotherapy as a component of treatment, but despite this aggressive therapy recurrences remain common. Improved understanding of chemoresistance pathways would allow better stratification of chemotherapy using predictive markers, and may allow therapeutic inhibition of resistance mechanisms in order to chemosensitise tumours. We aimed to identify molecular pathways that define chemoresponse using the novel approach of examining the selection exerted by neoadjuvant chemotherapy on sub-clonal somatic mutational profiles of cancer cells.

  Study EGAS00001003626

• Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

  The genetic defects leading to optic atrophy range from mitochondrial DNA (mtDNA) point mutations in Leber’s hereditary optic neuropathy (LHON), to dominant and recessive mutations affecting a cluster of nuclear genes implicated in mitochondrial dynamics. We performed WES in patients with an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions, to identify the genetic causes of this syndrome.

  Study EGAS00001003850

• Transcriptome profiling of three giant cell tumour of bone cell lines

  Transcriptome profiling of three established giant cell tumour of bone (GCTB) cell lines on the BGISEQ-500 platform (PE100). Cell lines consist of neoplastic "stromal" cells harboring a heterozygous H3F3A p.G34W mutation. Data was used in a study (Venneker et al., Histone deacetylase inhibitors as a therapeutic strategy to eliminate neoplastic “stromal” cells from giant cell tumors of bone, 2022) to determine H3F3A-WT/MT expression ratios, to identify pathogenic variants, and to examine the expression levels of epigenetic modifiers and regulators.

  Study EGAS00001006441

• Cold Ischemia Study

  This study aimed to evaluate the impact of cold ischemia time on the expression of cancer-related genes, particularly those involved in hypoxia, apoptosis, and epithelial-to-mesenchymal transition (EMT). We performed RNA sequencing on 54 normal colon mucosa samples from nine patients undergoing colorectal cancer surgeries, freezing samples at predefined intervals ranging from 0 to 60 minutes. A total of 44 differentially expressed genes (DEGs) (p < 0.05) were identified when comparing samples frozen immediately (T0) with those frozen after 60 minutes (T5).

  Study EGAS00001008233

• RNAseq - Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma

  We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting.

  Dataset EGAD00001001050

• Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma

  We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting.

  Dataset EGAD00001001046

• WES

  Genomic DNA was extracted from PBMCs and whole blood using the Chemagic Prime DNA Blood 4k kit. DNA quality and integrity were assessed by Qubit and Tapestation, and only samples with sufficient quantity, DIN > 6, and confirmed sex were used. Whole-exome libraries were prepared with the SureSelect XT Human All Exon V8 kit (Agilent), covering all human protein-coding regions. DNA was fragmented, adapter-ligated, captured, and amplified following the manufacturer’s protocol. Libraries were quantified, pooled (95 samples), and sequenced on an Illumina NovaSeq 6000 using S4 flow cells, generating up to 12 billion paired-end reads per run.

  Dataset EGAD50000002037

• LongRNA_Monocytes

  This dataset consists of bulk RNA sequencing profiles generated from monocytes isolated from peripheral blood mononuclear cells (PBMCs) collected from 315 patients enrolled in the ImmunAID consortium. Each sample corresponds to a unique patient, providing a resource to investigate transcriptional variation in circulating monocytes across the cohort. PBMCs were isolated from whole blood, and monocytes were subsequently enriched using standard immunological protocols. Total RNA was extracted and libraries were prepared using the SMART-Seq mRNA Library Preparation Kit with Unique Molecular Identifiers (UMIs). Sequencing was performed on an Illumina NovaSeq 6000 platform following manufacturer-recommended protocols.

  Dataset EGAD50000002341

• NGS-Based Mutational Analysis of 87 PMBL Patients from the GAINED Cohort (Subset of 382 Sequenced Patients)

  Targeted DNA sequencing was performed on DNA extracted from 87 formalin-fixed paraffin-embedded (FFPE) samples, representing a subset of the 382 sequenced patients from the GAINED cohort. A custom “Lymphopanel” was used to identify mutations in 70 genes associated with lymphomagenesis. Library preparation, exome capture, sequencing, and analysis were conducted by IntegraGen SA (Evry, France). Sequencing was performed on an Illumina HiSeq4000 platform, with variant calling and annotation using established bioinformatics tools such as MuTect and VEP.

  Dataset EGAD50000001359

• Transcriptomic analyisis of 54 samples of AC16 cells exposed to trastuzumab

  Data of 54 samples with their 54 paired fastaq files that were sequenced in a Novaseq 6000 platform. Samples correspond to the three biological replicates of AC16 cells (i.e. AC16, C1, C2). Each biological replicate was edited to carry either of the three different genotypes of the rs1136201 variant (i.e. AA, AG, GG) and each genotype was enriched to express HER2 protein in three levels (i.e. low, medium and high expression) as selected by FACS. Additionally, treatment of each sample was performed and sequenced in duplicates (i.e. 1 and 2)

  Dataset EGAD50000001705

• WES and RNA-seq of pre-invasive lung adenocarcinoma

  The prevalence of lung adenocarcinoma (LUAD) has increased sharply in East Asia. Early diagnosis leads to better survival rates, but this requires an improved understanding of the molecular changes during early tumorigenesis, particularly in non-smokers. We performed whole exome-sequencing and RNA-sequencing of samples from 94 East Asian patients with precancerous lesions (25 with atypical adenomatous hyperplasia [AAH]; 69 with adenocarcinoma in situ [AIS]) and 73 patients with early invasive lesions (minimally invasive adenocarcinoma [MIA]). This datasets contains the sequencing raw data (FASTQ format).

  Dataset EGAD50000000637

• Pharmacological improvement of CFTR function rescues airway epithelial homeostasis and host defense in children with cystic fibrosis

  This dataset encompasses single-cell RNA sequencing data derived from nasal swabs of a paired cohort of school-aged children with cystic fibrosis. The study includes samples both before (n=13) and after initiation (n=13) of elexacaftor/tezacaftor/ivacaftor (ETI) treatment. Additionally, age- and sex-matched controls were included (n=12). Detailed information about the study design and methodology can be found in the manuscript: “Pharmacological improvement of CFTR function rescues airway epithelial homeostasis and host defense in children with cystic fibrosis”.

  Dataset EGAD50000000173

• 463 newly diagnosed patients paired samples (Tumor/Normal)

  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.

  Dataset EGAD00001001358

• WGS data of fetal stem cells (15x) and culture-associated mutations of iPSCs and ISC

  This data set includes WGS data of the in vivo acquired mutations in fetal ISCs and HSPCs of 4 foetuses ( T21=2, D21= 2). In addition, this data set includes sub-clonal fetal ISCs to determine the culture-associated mutations of fetal ISCs. Also, it concludes clone +subclone WGS data of iPSCs derived of the fetal ISCs

  Dataset EGAD00001008475

• scRNA-seq raw data

  scRNA-seq data of B-lineage cells from the cerebrospinal fluid of 21 patients with multiple sclerosis. The data was generated with the Smart-seq2 protocol and sequenced on Illumina NextSeq500.

  Dataset EGAD00001008481

• T-cell receptor targeting FLT3 D835Y mutation study

  We identified a T-cell receptor (TCR) reactive to the recurrent FLT3 D835Y mutation in the tyrosine-kinase domain. To validate the elimination efficacy of leukemia cells, we transplanted human acute myeloid leukemia (AML) cells with FLT3 D835Y mutations into NSG-SGM3 mice and treated either with TCR FLT3 D835Y redirected T cells, or control TCR (TCR 1G4). After treatment, we performed flow sorting of AML blasts (CD3-CD19-) and primary T cells (CD3+CD8+orCD4+CD19-CD33-) and performed whole-exome sequencing.

  Dataset EGAD00001011258

• scWGS dataset of Characterization of UV DNA damage in B-cell precursor acute lymphoblastic leukemia

  Extensive characterization of mutational signature SBS7a in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) samples. We aimed to describe the presentation of SBS7a in BCP-ALL, identify other pediatric cancers presenting with SBS7a, look into the link of SBS7a and UV-light in the context of BCP-ALL and cancers with provable UV exposure, and pinpoint when SBS7a was acquired.

  Dataset EGAD00001015601

• Massively Multiplex Single-Cell Hi-C of HeLa Cells

  In this study, we developed a massively multiplexed, single-cell Hi-C protocol to study the chromosomal architecture of single HeLa cells.

  Study phs001269

• Whole-exome-sequencing in Motor neuron disease (MND)

  To identify the genetic cause and modifiers of Motor neuron disease (MND), we performed Whole-exome-sequencing of Motor neuron disease (MND) patients.

  Study JGAS000422

• Whole-genome-sequencing and Whole-exome-sequencing in Myopathy

  To identify the genetic cause and modifiers of Myopathy, we performed Whole-genome-sequencing and Whole-exome-sequencing of Myopathy patients.

  Study JGAS000365

• Whole-exome-sequencing in Charcot-Marie-Tooth disease (CMT)

  To identify the genetic cause and modifiers of Charcot-Marie-Tooth disease (CMT), we performed Whole-exome-sequencing of CMT patients.

  Study JGAS000337

• Single cell transcriptome analysis of breast invasive carcinoma

  We performed single-cell RNA-seq of breast invasive ductal carcinoma to identify the expressional heterogeneity in Luminal subtype and HER2-positive subtype.

  Study JGAS000309

• Genome sequence comparison of human iPS cell lines

  We performed whole genome sequencing analysis on human iPSC lines to understand the impact of genetic variations on clonal epigenetic variations.

  Study JGAS000310

• Clonal hematopoiesis in metastatic urothelial and renal cell carcinoma

  This study aimed to determine the prevalence and clinical relevance of clonal hematopoiesis in metastatic urothelial and renal cell carcinoma.

  Study EGAS50000000870

• Tumor mutational landscape in individuals with CMMRD

  Whole exome sequencing data from the tumors (n=16) of individuals with constitutional mismatch repair deficiency. Data was aligned to GRCh38.

  Study EGAS50000000081

• HiC data of human LCLs

  HiC data of human LCLs data in two cases with non-coding structural variants in the FOXG1 TAD. Both processed data and raw sequencing.

  Study EGAS50000001768

• Vascularized human retinal organoids

  Single cell RNA sequencing of human retinal organoids that have been vascularized. Assesses the impact of vascularization on cell types and their gene expression.

  Study EGAS50000000828

• TOTHER3

  Patritumab deruxtecan in HER2-negative breast cancer: part B results of the window-of-opportunity SOLTI TOT-HER3 trial and biological determinants of early response

  Study EGAS50000000385

• This data consists of iPSC derived model systems stimulated with different media.

  This data consists of iPSC derived model systems stimulated with different media (where possible from the top/bottom separately) to provide insight into which more accurately reflects the human gut environment.

  Dataset EGAD50000001918

• Spatial transcriptomics prostate cancer

  Spatial transcriptomic characterization of human fresh frozen prostate cancer and non-malignant regions from the same patient. 100 micron thick sections were made from the biopsies, adjacent to snRNA sequencing, and subjected to 10x Genomics Visium ST analysis.

  Dataset EGAD50000001634

• Short-read RNA-seq of doxycycline-inducible DUX4 human myoblast cell lines

  The dataset includes the short-read RNA sequencing data of DUX4i myoblasts (Clone-5 and Clone-7) with and without 16-hour DOX-treatment (n=1 in each condition).

  Dataset EGAD50000000719

• WGS of 125 cord blood hematopoietic stem and progenitor cells

  This dataset contains 125 BAM files of cord blood hematopoietic stem and progenitor cell DNA, sequenced with Illumina Novaseq 6000, and 125 files with the variant calling performed to the sequencing data.

  Dataset EGAD50000000417

• Phenytoin_case-control

  Genotype dataset from individuals diagnosed with phenytoin-induced Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) and control individuals from the Thai population. DNA was extracted from whole blood, and SNP genotyping was performed using the Illumina HumanOmniExpressExome-8 v1.2 array.

  Dataset EGAD00010002790

• Peripheral blood DNA methylation data from CD patients prior to vedolizumab treatment from John Radcliffe Hospital

  DNA methylation validation data as obtained using the Illumina HumanMethylation EPIC BeadChip array (V1) on peripheral blood from CD patients at the John Radcliffe Hospital, Oxford, UK prior to vedolizumab treatment

  Dataset EGAD00010002652

• Peripheral blood DNA methylation data from CD patients prior to and during vedolizumab treatment from AmsterdamUMC

  Longitudinal DNA methylation discovery data as obtained using the Illumina HumanMethylation EPIC BeadChip array (V1) on peripheral blood from CD patients at the AmsterdamUMC prior to and during vedolizumab treatment

  Dataset EGAD00010002651

• Peripheral blood DNA methylation data from CD patients prior to ustekinumab treatment from John Radcliffe Hospital

  DNA methylation validation data as obtained using the Illumina HumanMethylation EPIC BeadChip array (V1) on peripheral blood from CD patients at the John Radcliffe Hospital, Oxford, UK prior to ustekinumab treatment

  Dataset EGAD00010002650

• Peripheral blood DNA methylation data from CD patients prior to and during ustekinumab treatment from AmsterdamUMC

  Longitudinal DNA methylation discovery data as obtained using the Illumina HumanMethylation EPIC BeadChip array (V1) on peripheral blood from CD patients at the AmsterdamUMC prior to and during ustekinumab treatment

  Dataset EGAD00010002649

• KASP1-22

  234 samples genotyped at 15 loci LGC Genomics, Hoddesden, UK using the PCR-based KASP assay (Semagn,e tal (2014). Single nucleotide polymorphism genotyping using Kompetitive Allele Specific PCR (KASP): overview of the technology and its application in crop improvement. Mol Breeding 33, 1–14.)

  Dataset EGAD00010001905

• scRNAseq of T-cells from two responders to high-dose ipilimumab

  ScRNAseq of CD3 T-cells isolated from post-treatment bladder tissue from 2 samples from the NABUCCO 1 trial. Paired-end RNAsequencing was used on the Illumina NovaSeq 6000 sequencing platform.

  Dataset EGAD50000002557

• ImmunoAgeing_Colonies

  Using patterns of shared mutations between haematopoietic stem cells in 14 individuals with clonal haematpoiesis, we aim to determine the timing of somatic mutation acquisition.

  Study EGAS00001003933

• Osteosarcoma_RNAseq

  We propose to definitively characterise the somatic genetics of Osteosarcoma cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome and transcriptome sequencing.

  Study EGAS00001000615

• Exome_sequencing_of_Bilateral_Anophthalmia_cases__Pilot_Study_

  This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Bilateral Anophthalmia.

  Study EGAS00001000356

• Lung_Cancer_Whole_Genomes

  We propose to definitively characterise the somatic genetics of Lung cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing.

  Study EGAS00001000148

• Fungal infection in neural tissue from Amyotrophic Lateral Sclerosis

  The study shows that fungus infection, isolated from neural tissue, can be a risk factor to develop Amyothophic lateral sclerosis (ALS).

  Study EGAS00001002473

• SFHS_pedigrees

  Deep (>25x mean coverage) whole genome sequencing on 5-10 families drawn from the Scottish Family Health Study with four or more children.

  Study EGAS00001000078