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• scRNA-seq, WES, and bulk RNA-seq on longitudinal samples from 7 Lymphoma patients treated with CD20xCD3 bispecific antibodies

  We performed scRNA-seq on 15 fresh lymph node core biopsies from 7 Lymphoma patients treated with CD20xCD3 bispecific antibodies. We also performed whole-exome sequencing (WES) and bulk RNA-seq on formalin-fixed paraffin embedded (FFPE) tumor samples from these patients. WES was additionally performed on matched germline samples (blood) for each patient.

  Dataset EGAD00001011350

• WES raw data set for the study "Genomic profiling of localized (lFL) and systemic follicular lymphoma (sFL) reveals novel insights into FL pathogenesis"

  221 patient samples including 164 initial tumor (TI) samples (53/164 fresh frozen TI samples, and 111/164 formalin-fixed paraffin-embedded (FFPE) TI samples), 22 paired matched normal samples, and 35 unpaired normal samples from healthy donors; FASTQ file format, Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, Inc., Santa Clara, California, USA)

  Dataset EGAD00001011369

• RNA-sequencing and targeted DNA-sequecing of human thyroid tumors and normal samples

  RNA-sequencing data: 5 normal thyroid tissues, 14 papillary thyroid carcinomas, 2 lymph node metastases, 19 poorly differentiated thyroid carcinomas and 17 anaplastic thyroid carcinomas; Targeted DNA-sequencing of the 165 genes included in the “Solid and Haematological tumors” panel (BRIGHTCore, Brussels, Belgium): 2 normal thyroid tissues, 2 poorly differentiated thyroid carcinomas and 7 anaplastic thyroid carcinomas; 2 FASTQ files for each sample (paired).

  Dataset EGAD00001011678

• RNAseq Atlas in HCC tumors

  The atlas provides a comprehensive exploration of genetic and transcriptomic landscapes within HCC, offering insights into key genomic alterations and gene expression patterns. The integration of DNA sequencing and RNAseq data enhances our understanding of the molecular complexity underlying HCC, potentially paving the way for targeted therapeutic strategies and biomarker discovery in the context of hepatocellular carcinoma.

  Dataset EGAD00001015341

• RNA-seq dataset: Short-term fasting before living kidney donation has an immune-modulatory effect

  This dataset contains 13 RNA-seq samples in CRAM format, generated using the Illumina NovaSeq 6000 platform. The Roche_mRNA_UniversalAdapterUniquePrime protocol was used for library preparation. The aim of the study is to determine the effect of Short-Term Fasting on the abundance and phenotype of different immune cell populations.

  Dataset EGAD00001015472

• RNA-seq data of Metabolic profiling of patient-derived organoids reveals nucleotide synthesis as a metabolic vulnerability in malignant rhabdoid tumors

  Patient-matched normal kidney organoid (103H) and MRT tumoroid (103T2) models were treated for 24h with either DMSO (ctrl), 400nM MTX, or 50nM BAY to investigate the direct effects of drug treatment on the expression of key metabolic enzymes in the nucleotide biosynthesis pathways.

  Dataset EGAD00001015391

• AHA Uganda Study RNAseq Dataset

  This dataset was generated as part of the AHA Uganda Study, an Acute Rheumatic Fever case-control prospective study conducted in Uganda. This dataset consists of raw fastqs from RNA sequencing for 266 samples (226 cases, 40 controls) from 162 individuals over five timepoints. RNA was extracted from Paxgene blood samples using the Sureselect HS2 library preparation kit. Sequencing was performed on Illumina NovaSeq 6000, yielding ~30-40 million raw paired reads per sample.

  Dataset EGAD00001015810

• ERDERA WES reanalysis - DPF2 Batch 8

  This dataset comprises processed genomic data from 1001 samples, corresponding to 1001 whole-exome sequencing experiments from ERDERA Data Processing Freeze 2. Data files include CRAM, gVCF (containing short variants, copy number variants, and structural variants), RoH (BED), B-allele frequencies (BW), and variant IGV visualizations (XML). Associated phenotypic and pedigree information for all samples is also included.

  Dataset EGAD50000002635

• Immunogenomics of Malignant Brain Tumors

  We performed systematic and comprehensive multi-sector immunogenomic analyses on 93 samples from a cohort of 30 patients with primary or recurrent gliomas or metastatic brain tumors, representing the largest cohort of these brain cancers studied spatially to date. For each patient, we characterized multiple spatially distinct regions using whole-exome (WES), custom capture validation, RNA, and TCR-sequencing. Our findings underscore the significant differences in clonal architecture between gliomas and metastatic brain tumors which translates into distinct neoantigen landscapes and, in turn, tumor infiltrating T cell clonotypic diversity. These data therefore provide high resolution insights into the immunogenomic landscapes within malignant brain tumors which may inform tumor-specific therapeutic approaches.

  Study phs002612

• Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin

  The study protocol for both cohorts has been previously described (Journal of Thrombosis and Thrombolysis 2012:1-12). HV1 cohort: Briefly 50 healthy volunteers were exposed to two weeks of 325mg/day aspirin after which whole blood RNA was collected in PAXgene tubes and profiled by microarray before and after aspirin exposure. The pre-aspirin samples were profiled on the U133A 2.0 array and the post-aspirin samples were profiled on the U1333plus 2.0 array. HV2 cohort: Briefly 53 healthy volunteers were exposed to four weeks of 325mg/day aspirin after which whole blood RNA was collected in PAXgene tubes and profiled by U133plus 2.0 array before and after aspirin exposure.

  Study phs000548

• Germline

  This study is part of the 'First 1,000 Days of Life and Beyond' study at the Inova Translational Medicine Institute. Whole-genome sequencing data from 1,291 parent-offspring trios was used to study the properties of clustered de novo mutations. The maternal clusters were found to be enriched in regions with accelerated maternal mutation rate and show distinct mutational signatures. For additional details, please refer to: "Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence". Jakob M. Goldmann, Vladimir B. Seplyarskiy, Wendy S.W. Wong, Thierry Vilboux, Pieter B. Neerincx, Dale L. Bodian, Benjamin D. Solomon, Joris A. Veltman, John F. Deeken, Christian Gilissen, John E. Niederhuber. Nature Genetics.

  Study phs001522

• Tissue Sampling and Biorepository to improve Cancer Cell Therapy

  This study focuses on the elucidation of determinants of response and resistance to anti-CD19 CAR T-cells in large B-cell lymphoma. Plasma samples were collected prior to treatment and serially post CAR T-cell infusion. Pre-treatment and relapse tumor samples were also obtained as available. Germ-line DNA isolated from Peripheral Blood Mononuclear Cells (PBMCs) was collected for all patients when available. Circulating tumor DNA (ctDNA) and tumor DNA were sequenced using a target hybrid capture oligonucleotide pool. RNA-Seq was also performed on tumor isolated RNA. The authors identified several recurrent genomic alterations associated with relapse, and identified molecular thresholds that were predictive of response.

  Study phs003145

• Gene-Environment Interactions in COCCaINE Use Disorder: Collaborative Case-Control Initiative in Cocaine Addiction

  Drug addiction is a phenotype that has high heritability estimates. In recent years, association studies of candidate genes and some genome-wide association studies (GWAS) have identified a large number of SNPs associated with substance use, abuse or dependence, particularly in phenotypes related to alcohol and nicotine use. Regarding snorted or smoked cocaine dependency, only one GWAS has been conducted so far. In addition, genetic association studies that specifically evaluated smoked cocaine dependence (e.g. crack) are rare, because of characteristics related to the route of administration and duration of the effect of the drug. Thus, the main aim of this GWAS was to identify genetic variations that modulate the risk for the cocaine dependence.

  Study phs001810

• RNA-Seq Data From Early Stage Triple Negative Breast Cancer Tumors Treated With TVEC and Chemotherapy (MCC18621)

  This study is a phase 1/phase 2 trial testing the combination of talimogene laherparepvec (TVEC) and neoadjuvant chemotherapy for the treatment of stage II-III triple negative breast cancer. The trial demonstrated that the addition of TVEC to neoadjuvant chemotherapy was feasible, and resulted in a pathological complete response (pCR) rate of 45.9%, residual cancer burden (RCB) 0-1 rate of 65%, and event free survival of 89%. The macrodissected formalin-fixed paraffin-embedded (FFPE) samples were from 50 patients treated across two phases at different timepoints (pre-treatment, 6th week of treatment, and surgical resection). RNA-Seq data is provided along with clinical classifiers.

  Study phs003199

• Mucosal Melanoma Targeted Exome Sequencing Study (UCSF)

  Mucosal melanoma is a deadly disease that carries the worst prognosis amongst subtypes of melanoma. Like all melanomas, mucosal melanomas are frequently driven by activating mutations in the MAPK and/or PI3K pathways; however, unlike melanomas that arise on sun-exposed skin, mucosal melanomas harbor few point mutations. Instead, most somatic alterations involve structural alterations, which appear early during tumor progression. Molecular studies in mucosal melanoma generally only profile point mutations without interrogating copy number alterations, and pathogenic mutations are only found in 30% of cases. We sequenced 38 mucosal melanomas, and in addition to profiling point mutations, we looked for copy number alterations that amplify oncogenes or delete tumor suppressors.

  Study phs001594

• Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

  Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9125 subjects referred to carrier screening. We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.

  Study phs001482

• Children's Hospital of Philadelphia: GWAS of Left-Sided Cardiac Defects

  This is a family-based genome-wide association study of congenital left-sided cardiac lesions (LSLs). Cases with LSLs and their parents were recruited from the Cardiac Center at The Children's Hospital of Philadelphia between 1997 and 2010. The discovery dataset included 405 LSL case-parent triads. DNA was extracted from blood or saliva samples from these subjects and genotyping was conducted using the Illumina Infinium II HumanHap550K array (V3). This study was conducted with approval from the Institutional Review Board for the Protection of Human Subjects of The Children's Hospital of Philadelphia and all research subjects provided either written informed consent or, when appropriate, assent.

  Study phs000781

• Genome Wide Association Study of Serum Creatinine during Vancomycin Therapy and Vancomycin Pharmacokinetics

  The goal of this study was to identify genetic variants associated with risk for acute kidney injury (AKI) in patients being treated with vancomycin and genetic variants associated with variability in vancomycin pharmacokinetics. AKI is a common adverse drug event and known complication of vancomycin therapy. Known risk factors fail to accurately predict renal toxicity. Our hypothesis, that genetic variants modify the risk of AKI, was tested by performing genome-wide association and linear regression in 429 patients of European descent using the outcome of peak serum creatinine while on vancomycin. We also tested the hypothesis that genetic variants associate with vancomycin pharmacokinetics, using vancomycin trough levels and calculated renal elimination rate constant as outcomes.

  Study phs000894

• Clinical and genetic analysis of retinopathy of prematurity - GWAS

  This project aims to identify genetic variants that contribute to the development of retinopathy of prematurity (ROP). ROP is a leading cause of childhood blindness worldwide. We have performed a genome wide association study (GWAS) using Illumina Global Screening Array (GSA) BeadChip. For this GWAS design we assembled the largest group of ROP patients described to date: around 1000 ROP patients in total. Demographic and phenotypic information associated with each sample includes gestational age, gender, ethnicity, multiple birth status, presence of ROP, and birth weight. The results of this study will help advance our understanding of the genetic susceptibility to ROP and may result in novel treatment options to slow the progression of the disease.

  Study phs002020

• Preclinical Modeling of Leiomyosarcoma Identifies Susceptibility to Transcriptional CDK Inhibitors through Antagonism of E2F-Driven Oncogenic Gene Expression

  Leiomyosarcoma (LMS) is a smooth muscle-derived mesenchymal cancer commonly found to have recurrent loss of tumor suppressor genes and a poorly defined oncogenic program. Empiric cytotoxic chemotherapy is the standard systemic treatment for LMS, and while more targeted and effective therapies are urgently needed, insights into therapeutic vulnerabilities in LMS have been limited by available preclinical models. We generated a panel of LMS patient-derived xenograft (PDX) models and evaluated fidelity to their tumors of origin using RNA sequencing and ultra-low passage whole-genome sequencing (ULP-WGS). Data available at dbGaP include RNA sequencing and ULP-WGS of primary tumors and early and late passages of PDX. 

  Study phs002587

• Neurogenetic Investigations of Obsessive-Compulsive Disorder

  Obsessive-compulsive disorder (OCD) is a disabling early-onset neuropsychiatric disorder with a clear genetic contribution to risk but unclear underlying pathophysiology, which has hindered the development of new treatments and interventions. This study uses high-throughput sequencing approaches to identify OCD risk genes, detect gene expression differences in OCD, and determine epigenetic signatures driving gene expression in OCD brain. These studies will improve our understanding of the underlying mechanisms of OCD and identify points of traction for mechanistic studies in model systems, ultimately leading to novel therapeutics, and reducing the significant morbidity and mortality associated with this disabling illness. Furthermore, insights gained in these studies can inform gene discovery approaches to other complex neuropsychiatric disorders.

  Study phs001929

• Malnutrition and Enteric Disease Network (Mal-ED) Case-Control Study in Brazil

  The Malnutrition and Enteric Disease Network (Mal-ED) Case-Control Study enrolled children in the age range 6-24 months between 2010 and 2014 in Fortaleza, Ceará, Brazil.The aim of the study was to understand the etiology and pathogenesis of malnutrition. Children were prospectively enrolled cases defined as weight for age Z Score (WAZ) <-2 and age and neighborhood matched controls defined as WAZ>-1.This submission includes genetic and associated phenotypic data on a subset of 336 participants. More information on this project and its related projects can be found here: Studies of diarrheal susceptibility, growth, and development, in pediatric populations in Northeastern Brazil

  Study phs003173

• Type 1 Diabetes Genetics Consortium (T1DGC): Case-only RNA-Seq Study

  Peripheral blood mononuclear cells (PBMC) from 82 T1D cases from the T1DGC study were fractionated by positive selection on magnetic beads into CD4+ T cells, CD8+ T cells and CD19+ B cells. RNA purification, library preparation and sequencing to an average of 50 million reads per sample were performed by the HudsonAlpha Genome Services Laboratory. The resulting dataset includes 82 subjects with data from at least one cell type; sequence data from all 3 cell types is available from 79 subjects. The individuals in this study can be linked to the phs000911 T1DGC ImmunoChip study via subject ids to obtain both genotypic and phenotypic information, including genotypes used for expression quantitative trait locus analysis.

  Study phs001426

• Epigenetic Analysis of Malnutrition

  The PROVIDE study (Dhaka, Bangladesh) is a randomized clinical trial platform which evaluated the efficacy of delayed-dose oral rotavirus vaccine as well as the benefit of an injectable polio vaccine replacing one dose of oral polio vaccine. This rigorous infrastructure supported the additional examination of hypotheses of vaccine underperformance. Primary and secondary efficacy and immunogenicity measures for rotavirus and polio vaccines were measured, as well as the impact of maternal and childhood malnutrition, environmental enteropathy, and additional exploratory variables. This study has been conducted to test the role of epigenetics in malnutrition, specifically the genome-wide role of histone modifications, which are known to provide a precise signature of metabolic state and immune system function.

  Study phs001073

• STAMPEED: Cardiovascular Health Study (CHS) GWAS to identify genetic variants associated with aging and CVD risk factors and events

  The primary aim of the study is to conduct a genome-wide association study to identify genetic variants associated with the incidence of myocardial infarction (MI), stroke, and heart failure (HF) among participants enrolled in the Cardiovascular Health Study (CHS) who were free of clinical cardiovascular disease at baseline. The secondary aim is to conduct genome-wide association study of other phenotypes in CHS. The study is an ancillary study to CHS. CHS is a population-based cohort study of risk factors for heart disease and stroke among older adults recruited at 4 US sites in 1989-1990. Subjects underwent an extensive baseline examination, and annual follow-up examinations through 1988-1999.

  Study phs000226

• The Epigenomic Atlas of Early Human Craniofacial Development

  Parallel profiling of six distinct histone modifications via ChIP-Seq in craniofacial tissue samples from individual human embryos was performed. Epigenomic marks imputed with ChromImpute and a 25-state chromatin state model of uniformly processed epigenomic data was produced through ChromHMM. Samples were obtained from the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) tissue bank. HDBR provided karyotypically and developmentally normal pharyngeal arch or craniofacial tissue from embryos between 4.5 and 10 post-conception weeks. This repository contains raw data (fastq) files from ChIP-seq and RNA-seq experiments associated with this project. Processed ChIP-seq data and imputed data for additional histone marks are available at GEO (Series GSE97752).

  Study phs002008

• Enhancer signatures stratify and predict outcomes of non-functional pancreatic neuroendocrine tumors

  Most pancreatic neuroendocrine tumors (PNETs) do not produce symptoms of hormonal excess and are hence considered “non-functional”. Their clinical behaviors vary widely, emphasizing the need for a robust classification with prognostic power. Using enhancer maps to infer regulatory programs, we find that the large majority of non-functional PNETs fall into two major sub-types that reflect alpha and beta endocrine cell ontogeny, respectively. Tumors of the different subtypes have similar clinical presentations and histology, but express distinct lineage-specifying transcription factors, ARX or PDX1. Here we provide the raw ChIP-seq and RNA-seq data of the PNET cohort in this study, as well as ChIP-seq data of ileal carcinoids.

  Study phs001910

• Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing

  Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polygenic model displaying the full spectrum of causal alleles that includes the extremes of rare, penetrant alleles as well as common alleles of small effect. Lower frequency polymorphism, rare variants and private mutations have eluded measurement by GWAS studies and thus association with disease. In order to create a comprehensive catalogue of low frequency or rare coding variation in individuals with psychiatric disease and to build a foundation for future genetic studies of schizophrenia and bipolar disorder, we have obtained whole exome DNA sequence from a population-based schizophrenia and bipolar disorder Swedish case-control cohort.

  Study phs000473

• Multiethnic Cohort Adiposity Phenotype Study (MEC-APS)

  A total of 1,861 healthy men and postmenopausal women aged 60-77 years with body mass indexes (BMIs) of 17.1-46.2 kg/m2 were enrolled into the study. Stratified sampling was conducted based on sex, race/ethnicity, and six BMI categories (18.5-21.9, 22-24.9, 25-26.9, 27-29.9, 30-34.9, and 35-40 kg/m2) to balance the sample size across the wide range of BMI and optimize adjustment for total adiposity in populations with different BMI distributions. Study participants underwent body composition assessment, in person interview, blood collection, and completed a self-administered questionnaire. A genome-wide association study of obesity phenotypes was conducted among five racial/ethnic groups of the Multiethnic Cohort Study.

  Study phs001689

• Grady Trauma Project (GTP)

  Not everyone exposed to traumatic experience develops Posttraumatic Stress Disorder (PTSD). Genetic background is one of the predisposing risk factors causing differential outcomes of trauma exposure. A primary goal of the Grady Trauma Project (GTP) is to pinpoint and understand genetic polymorphisms that contribute to development of PTSD. Both PTSD diagnosis binary labels and PTSD severity scores are studied as target phenotypes. Also, both candidate gene studies and genome-wide association studies are performed. Besides genetic variants, other measurements that are studied as risk factors for PTSD include lifetime history of trauma and peri-traumatic response. Study participants are primarily African American, trauma-exposed populations of low socioeconomic status recruited from Grady Memorial Hospital in Atlanta.

  Study phs002046

• Temporal Dissection of Tumorigenesis in Primary Cancers

  The earliest genetic abnormalities in cancer represent a unique opportunity for timely clinical diagnosis. Classic deep sequencing of tumors identifies many aberrations acquired later in cancer progression. In this study, data regarding simple mutation and chromosomal aberration were integrated to trace the evolution of cutaneous squamous cell carcinomas and ovarian adenocarcinomas. Only after the second allele of TP53 was lost did the genome enter a window of extreme genomic vulnerability, in both cancer types, eventually acquiring more than 100,000 mutations in skin cancers. Inactivating Notch mutations were also identified as prevalent secondary changes. These results add context to the idea of TP53 mutation as dominant negative and occurring later in tumorigenesis.

  Study phs000418

• Genome-Wide Association Study of Lung Cancer Susceptibility in Never-Smoking Women in Asia

  To learn about the etiology of lung cancer among never-smoking women in Asia, we formed the Female Lung Cancer Consortium in Asia (FLCCA), which includes studies of lung cancer in Eastern Asia and conducted a GWAS. We analyzed a total of 5510 lung cancer cases and 4544 controls and identified 3 novel loci (Lan et al., 2012). Of these study subjects, 4922 lung cancer cases and 3959 controls are available for posting. Lan et al.., Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. Nat Genet. 2012 Dec;44(12):1330-5. doi: 10.1038/ng.2456. Epub 2012 Nov 11. PubMed PMID: 23143601.

  Study phs000716

• Whole Exome Sequencing Analysis of Carfilzomib-Related Cardiotoxicity in Multiple Myeloma Patients

  This study investigated the contribution of germline genetic variants in protein-coding genes in carfilzomib-related cardiovascular adverse events among patients with multiple myeloma using whole-exome sequencing (WES) analysis. We analyzed 247 patients with multiple myeloma who had been treated with carfilzomib at the Moffitt Cancer Center. We identified a missense mutation in the TMSB10/TRABD2A locus that appeared to be associated with a higher risk for cardiovascular adverse events in these patients. In this submission, we will provide all the genotype data along with the phenotype data of whether or not a patient developed cardiovascular adverse events after carfilzomib treatment and all the covariates used in this analysis.

  Study phs003308

• Malnutrition and Enteric Disease Network (Mal-ED) Birth Cohort in Brazil

  The Malnutrition and Enteric Disease Network (Mal-ED) Birth Cohort in Brazil enrolled 242 children between 2010 and 2014; an additional 101 infants recruited under the ICIDR (International Center for Infectious Disease Research) program and evaluated by the same procedures as Mal-ED were included in the cohort. The aim of the study was to evaluate the role of enteropathogens in causing intestinal inflammation and a failure of growth and development.This submission includes genetic and corresponding anthropometric data on a subset of 279 participants. More information on this project and its related projects can be found here: Studies of diarrheal susceptibility, growth, and development, in pediatric populations in Northeastern Brazil

  Study phs003172

• Genetic contributions of lupus nephritis in a multi-ethnic cohort of systemic lupus erythematosus (SLE)

  Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE) and it occurs at a much higher rate in patients that are not of European descent. The purpose of this study is to identify genetic variants contributing to the risk of LN in a multi-ethnic cohort of SLE patients. We used a comprehensive genome-wide screen and 1244 SLE patients from 5 different ethnic groups. In genome-wide gene-based and candidate SNP analyses, we found distinct genes and pathways, and established risk SNPs associated with lupus nephritis for each ethnic group. This study represents progress in elucidating the genetic underpinnings driving LN among SLE patients of different ethnic groups.

  Study phs001609

• The Gut Microbiome in Parkinson's Disease

  The uploaded data come from a nested case-control study, with participants with Premotor Parkinson Disease (PPS) as cases. In addition to the PPS cases, the study has three control groups: 1) constipation only controls, defined as those who only reported constipation, but not probable REM sleep behavior disorder (pRBD) or hyposmia; 2) healthy controls  who did not report constipation, pRBD or hyposmia; and 3) patients with recently diagnosed confirmed PD (diagnosed after January 1, 2010).  Participants were contacted between 2016 and 2020 for a set of two stool samples. All participants provided a baseline stool sample and a subset (N = 120) will provide a second stool sample.

  Study phs002193

• Metatranscriptomic Sequencing of Pulmonary Fluid in Immunocompromised Children

  Despite improved diagnostics, pulmonary pathogens in immunocompromised children frequently evade detection, leading to significant mortality. In version 1.0 of this study, we performed RNA-based next generation sequencing (mNGS) on 41 lower respiratory samples collected from 34 children. We identified a rich cross-domain pulmonary microbiome containing bacteria, fungi, RNA viruses, and DNA viruses in each patient. Potentially pathogenic bacteria were ubiquitous among samples but could be distinguished as possible causes of disease by parsing for outlier organisms. Potential pathogens were detected in half of samples previously negative by clinical diagnostics. In version 2.0, we included an addition 278 samples from 229 pediatric stem cell transplant patients with pulmonary disease.

  Study phs001684

• Developing Biomarkers Incorporating High Throughput RNA, DNA, Small RNA Sequencing and Protein Expression in Inflammatory Bowel Disease Using Formalin-Fixed, Paraffin-Embedded (FFPE) Tissue Samples

  This study included pediatric patients with suspected inflammatory bowel disease (IBD) who underwent endoscopy between 2008 and 2012. This included 101 colonic tissue samples and 100 ileal tissue samples. Biopsies were obtained at the time of diagnosis, and patients were followed for a mean of 6 years to record clinical characteristics. These included baseline characteristics, such as age of diagnosis and initial Montreal classification, as well as outcomes, such as stricturing or fistulizing complications, disease remission, or progression to surgery.Genes with significant results in the non-IBD vs CD comparison in colonic tissue are listed in the "Links to Related Genes" section of this page.

  Study phs003156

• Genomic Analysis of Diffuse Large B Cell Lymphoma

  Tumors from 383 newly diagnosed diffuse large B cell lymphoma were included in this study. Tumor DNA was extracted from formalin-fixed, paraffin embedded (FFPE) tissue sections, germline DNA was extracted from blood, and whole exome sequencing (WES) of all samples (n=340 tumor normal pairs) was performed using the Agilent SureSelect XT AllExon v5 + UTR kit and sequencing was carried out on an Illumina NovaSeq, 100 x 2 paired end reads. Tumor RNA (n=321) was extracted from formalin-fixed, paraffin embedded (FFPE) tissue sections and RNA sequencing was performed using the Illumina TruSeq RNA Exome Kit (Illumina) for library preparation, sequencing platform HiSeq 4000, 100 x 2 paired end reads.

  Study phs003634

• Whole Exome and RNA Sequencing of 22 Patient-Derived Xenografts from Estrogen Receptor-Positive Breast Cancers

  We performed RNA and whole exome sequencing on 22 patient-derived xenografts (PDX) from estrogen receptor-positive (ER+) breast cancers, in the presence and absence of estradiol (E2) supplementation. Exome coverage across more than 3,500 clinically relevant genes that previously were covered below 20X (~2.72Mb) was achieved. On average, 11.2Gb of unique sequence data were generated with 95.3% of the bases in the exome design covered to 20x read depth or greater. RNA sequencing was generated from xenograft tumors. Between 50 and 85M total reads were performed. The average strand-specificity and rRNA rate was 98% and 1.5%, respectively. Transcripts for 17,000 to 27,087 genes were detected in these samples.

  Study phs003324

• Transcriptomics of PPD and Control LCLs Exposed to Steroid Hormones

  Lymphoblastoid cell lines (LCLs) were derived from women with (n=11) and without (n=9) past postpartum depression (PPD) and compared transcriptomically in two studies. Data provided represents: 1) normalized RNA-seq expression (CPM) or 2) Ampliseq-RNA Expression (CPM).The two studies are described below.1) The first examined estradiol (E2) and progesterone (P) hormone conditions mimicking pregnancy and parturition: supraphysiologic E2+P-addback; supraphysiologic E2+P-withdrawal; and no added E2+P (Baseline). RNA-sequencing identified unique differentially expressed genes (DEGs, p2) The second exposed control and PPD LCLs to ALLO or DMSO vehicle for 60 hours and used Ampliseq to detect differentially expressed genes (DEGs, pnominal

  Study phs003820

• Amplicon sequencing of various tumors

  In our previous studies on advanced esophageal, gastric, and colorectal carcinomas, measurement of circulating tumor DNA (ctDNA) in terms of variant allele frequency (VAF) in blood suggested: (1) patients with high VAF have a high chance of relapse; (2) VAF changes in response to treatment; and (3) ctDNA VAF elevation precedes imaging diagnosis of relapse. It is thus necessary to investigate whether these findings can be generalized in a wide cancer spectrum, types of treatment, and relapse phenotypes across cancer types. In the present study, we conduct a non-interventional observational study in a wide cancer spectrum on the basis of technical establishment for ctDNA using our unique digital PCR probe library.

  Study JGAS000366

• The role of gut microbiota in metabolic diseases

  Diabetes is a major disease in the elderly and is responsible for increased risk of myocardial infarction and stroke. Recently, the relationship between microbiota and diabetes has been reported in animals and humans. In this study, blood, stool, and saliva samples were collected from examinees at the University of Tokyo Health Screening Center, and 16S rRNA and metagenomic analyses were performed to determine the variation of microbiota. Furthermore, metabolome analysis and transcriptome analysis (CAGE analysis) using blood were performed to reveal changes in host metabolites and gene expression. By comparing the host- and bacteria- derived information with the metabolic parameters, we analyzed whether microbiota can be a predictor of metabolic diseases.

  Study JGAS000569

• Insights into BRCA1 and TP53 associated breast cancer development from integrated whole genome analysis of mouse model mammary tumors

  Germline mutations in BRCA1 are a leading cause of hereditary breast cancer. We generated Brca1;Trp53 double conditional knockout (CKO) and Trp53 single CKO mouse models, both with either one or two copies of Trp53 deleted by Cre. We used whole-genome sequencing and optical genome mapping to interrogate the genomes of the resulting mammary tumors. Our comprehensive genomic analyses show that the Brca1;Trp53-CKO tumors recapitulate major genomic features of the human BRCA1 breast samples indicative of conserved fundamental mutational processes. This study also provides new insights into the genetic mechanisms of tumor development with potential implications for the treatment of BRCA1 cancers.

  Study EGAS50000001402

• Long-read whole genome sequencing of gastric cancer

  Gastric cancer (GC) remains a significant health challenge globally, with a particularly high incidence in Asia, including Singapore. Understanding the genomic landscape of normal gastric and the different GC subtypes along with its precursor lesions such as intestinal metaplasia (IM) as well as GC metastatic sites is crucial for advancing diagnostics, prognostics, and therapeutics. Long-read sequencing technologies offer an opportunity to delve deeper into the genomic and epigenetic alterations underlying these conditions and to complement existing short-read omics data. By integrating these data with previously generated in-house multi-omics data (such as RNA sequencing and whole exome sequencing), we hope to better elucidate the molecular mechanism underlying GC initiation and progression.

  Study EGAS50000001607

• Re-evaluation of human mitochondrial DNA methylation reveals signals consistent with technical artifacts

  The existence and functional relevance of mitochondrial DNA (mtDNA) methylation remain controversial. We assessed 5mC and 5hmC in human brain, blood, and related cancers using both enzymatic and native DNA sequencing. While nuclear DNA exhibited expected methylation patterns, mtDNA consistently showed negligible methylation levels, indistinguishable from technical noise. Elevated methylation in nuclear-embedded mitochondrial sequences demonstrates a clear potential to confound mtDNA methylation measurements. Furthermore, technical discrepancies in mtDNA methylation were observed, underscoring the need for careful evaluation when interpreting data generated using earlier sequencing workflows. Our findings provide evidence against the presence of 5mC or 5hmC in mtDNA under the physiological and pathological conditions studied.

  Study EGAS50000001186

• Transcriptomic profiling of granulosa cells from IVF patients at different ages

  Two major factors contributing to reduced fertility is use of exogenous hormones and old age. Here, we sequenced RNA from granulosa cell samples from human patients undergoing in vitro fertilization to test how hormonally stimulated cells' transcriptional profiles change with age. All patients were normal responders referred for male infertility and were grouped into two age groups. The gene expression differences in aging were compared to mouse data (previous experiments, see ArrayExpress E-MTAB-13479) and the results are published in the article "Granulosa cell transcription is similarly impacted by superovulation and aging and predicts early embryonic trajectories". Corresponding count tables are available in ArrayExpress (E-MTAB-13496).

  Study EGAS50000000824

• Illumina HiSeqX and HiSeq 2000 whole genome sequence data on 3,001 ALS samples including 212 with known C9orf72 repeat expansions

  Whole genome sequence (WGS) data was generated on 3,001 samples previously quantified for the presence of the C9orf72 repeat expansion (212 expanded and 2,789 wild type), These samples were sequenced using a combination of 2x100bp reads on an Illumina HiSeq2000 and 2x150bp reads on an Illumina HiSeqX sequencer. The repeat expansions were called using ExpansionHunter to demonstrate the ability to call large repeats from high throughput, WGS data. Provided here are all read pairs where at least one of the reads aligns within 1kb of the C9orf72 repeat expansion in addition to reads aligned in pre-determined off target locations where the aligners are known to mis-align reads.

  Study EGAS00001002598

• DNA_repair_in_BLM_deficient_hiPSCs

  We are aiming to investigate repair of a double strand break (DSB) within the genome in the presence and absence of the BLOOM protein. Zinc Finger Nucleases introduce DSBs at specified loci within the genome. Using sequencing we will assess the size of the deletion following repair. Protocol1. Transfect normal and BLOOM deficient human iPS cells with ZFNs, using AMXA2. Harvest cells after 5 days3. Perform column extraction of DNA4. PCR-amplify the ZFN region 5. Sequence and analyse repair of the DSBThis data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Study EGAS00001000740

• ESGI_Identification_of_novel_genes_and_mechanisms_leading_to_Primary_Ciliary_Dyskinesia

  Approximately 80% of clinically clearly diagnosed patients suffering from primary ciliary dyskinesia (PCD) cannot be assigned to a specific gene defect. Despite extensive research on PCD and despite the increasing number of PCD genes and knowledge about their sites of action as e.g structural component or cytoplasmic pre-assembly factor, the biology of motile cilia and the pathomechanism leading to PCD is largely unknown. The aim of this study is to identify novel PCD related genes and processes relevant for motile cilia function.We will perform exome sequencing, aiming on the analysis of family trios. In these families, the diagnosis of PCD is secured, but the underlying gene defects has so far not been identified.

  Study EGAS00001000523