Search Results - EGA European Genome-Phenome Archive

Ultrasensitive Profiling of UV Mutations in Facial Tumors in TSC

In this study we searched for mutations in the TSC2 and TP53 genes in sample sets from individuals with Tuberous Sclerosis Complex (TSC) and from subjects without TSC. The study was focused on the analysis of TSC facial angiofibroma.

Study phs002914

EOSC4Cancer Synthetic Colorectal Cancer Genomic data

In this study there are stored the synthetic datasets produced by partners involved in EOSC4Cancer. The study contains independent datasets available for the research community. The synthetic genomes have been created trying to mimic real cancer data.

Study EGAS50000000190

Predictor_RIO_TNBC

In this study, samples fom a window study of the PARP inhibitor rucaparib in patients with primary triple negative or BRCA1/2 related breast cancer (RIO trial) will be investigated. Samples will undergo whole genome sequence and analysis, including use of HR Predict.

Study EGAS00001002805

ExHiBITT shows that microbiome from colon biopsies, caecal fluid from colonoscopies and faecal samples shape different microbiome-host interactions

The objective of the colonoscopy study is to carry out the 16s sequencing of colon biopsies and faecal samples provided in ExHiBITT study to compare potential fluctuations in the microbiota of different sites.

Study EGAS00001007313

Pediatric study using genome sequencing

This study used whole genome sequencing to assess genome variants from DNA from pediatric individuals seen in genetics clinic who were thought to have genetic conditions.

Study EGAS00001005553

Nuclear_single_seq_pilot

The aim of this study is to analyse the genomes of tumours

Study EGAS00001003386

Pulldown_DNA_methylation_study_v2

Pilot study to set up sequencing protocols for targeted pulldown methylation profiling

Study EGAS00001000979

CALGB 80303:Genome-Wide Association Study of Advanced Pancreatic Cancer Patients - A Randomized Phase III trial of Gemcitabine Plus Bevacizumab versus Gemcitabine Plus Placebo in Patients with Advanced Pancreatic Cancer

CALGB 80303 was a randomized, phase III study in advanced pancreatic cancer patients treated with Gemcitabine plus either Bevacizumab or placebo. No difference in overall survival (OS) was observed between the two arms. We prospectively collected germline DNA and conducted a genome-wide association study (GWAS).

Study phs000250

Panel-based next-generation sequencing study of human liver samples.

Panel-based next-generation sequencing study of 150 human surgical liver samples from Caucasian donors with detailed medical documentation. The overall purpose of the study was to identify expression quantitative trait loci (eQTL) in human liver for genes involved in absorption, distribution, metabolism and excretion of drugs, other xenobiotics, and endogenous substances.

Study EGAS00001003426

PCPT and SELECT Cohorts: Core Infrastructure Support for Cancer Research

SELECT study: SELECT was a phase III, double-blind, placebo-controlled 4-arm study of selenium, vitamin E, selenium and vitamin E together, and placebo designed to assess the effect of these supplements on the incidence of prostate cancer. Funded by the National Cancer Institute and conducted by SWOG, the study opened in August 2001 and quickly exceeded its accrual goal of 35,533 men.In the fall of 2008, the trial's Data Safety and Monitoring Committee recommended that participants discontinue taking study supplements due to convincing evidence (planned interim futility analysis) that neither vitamin E nor selenium supplements were associated with the prevention of prostate cancer. A subsequent analysis in 2011 showed a significant 17% increase in prostate cancer incidence in participants who were on the vitamin E only arm. Approximately 17,000 participants from the original trial recently completed an additional four years of centralized follow-up. This follow-up ended on May 31, 2014 and SELECT is now closed. PCPT study: The Prostate Cancer Prevention Trial (PCPT) was a SWOG Cancer Research Network-coordinated study designed to test whether the drug finasteride (Proscar®) would prevent prostate cancer in men ages 55 and older. This study was closed on June 24, 2003 because the study objective had been reached. The results of the study, which did find a preventive benefit for the drug, were published as "The Influence of Finasteride on the Development of Prostate Cancer," in the New England Journal of Medicine on July 17, 2003.

Study phs003382

Neuroblastoma sequencing data

This study shares tumor and normal DNA for a patient with neuroblastoma

Study EGAS00001005602

Osteosarcoma sequencing data

This study shares DNA and RNA sequencing data from embryonal rhadbomyosarcoma patients

Study EGAS00001005600

Reference Profiles of ExRNAs in Normal Human Pregnancy

In this study, we did a comprehensive exRNA profiling of plasma and serum specimens from healthy pregnant women, sampled at different gestational time points, and including subjects with diverse geographical and ethnic backgrounds. This study also contains samples from male and female healthy donors to provide a baseline. The aim of this study is to identify miRNAs that can predict the gestation age and to build a miRNA profile across gestation using small RNA-seq data.

Study phs003182

Myocardial Infarction Genetics Exome Sequencing Consortium: U. of Leicester

MI cases were ascertained from two studies: (i) the British Heart Foundation Family Heart Study and (ii) the BRICCS Study. Control subjects were ascertained from the control subjects being recruited as part of the UK Aneurysm Growth Study (UKAGS). All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Illumina's ICE Capture reagent and sequencing was performed on an Illumina HiSeq 2000 or 2500.

Study phs001000

Circulating tumour DNA (ctDNA) data of High Grade Serous Ovarian Cancer Patients

This study contains circulating tumour DNA (ctDNA) data derived from longitudinal plasma samples of High Grade Serous Ovarian Cancer (HGSC) patients belonging to the DECIDER study (NCT04846933). Ovarian cancer kills more than 40 000 women in Europe each year, and HGSC is the most common and most difficult to treat subtype of this disease. This study contains different sequencing datasets with samples from different stages during the treatment of the patients.

Study EGAS50000000674

Understanding Determinants of Racial Disparities in Lung Cancer Incidence

This is a nested case-control study designed to evaluate the association between common genetic variants and the risk of lung cancer. The study included 1258 cases and 1252 controls selected from the Southern Community Cohort Study (SCCS), a large, prospective observational cohort. Cases were identified from cancer registries across the catchment area of the SCCS. Cases and controls were frequency matched on age, sex, race, and enrollment site (community health center vs general population).

Study phs003789

In this study, we performed exon sequencing (WXS) of 80 paired Brain cancer tumors and adjacent normal tissues to identify novel potential biomarkers. We extracted mutational signatures which induce somatic mutations . Our study covers a comprehensive genetic framework that can be used in clinical trials and treatment modalities in Brain cancer.

In this study, we performed exon sequencing (WXS) of 80 paired Brain cancer tumors and adjacent normal tissues to identify novel potential biomarkers. We extracted mutational signatures which induce somatic mutations . Our study covers a comprehensive genetic framework that can be used in clinical trials and treatment modalities in Brain cancer.

Study EGAS00001002352

Copy-number signatures and mutational processes in ovarian carcinoma

This study contains the data underlying our approach for copy-number signature identification in high-grade serous ovarian cancer. The samples studied are part of the BriTROC-1 consortium, a national study into relapsed high-grade serous ovarian cancer. The dataset consists of shallow-whole genome sequencing of 300 samples from 143 patients with match tagged-amplicon sequencing of TP53. The study also contains deeper whole-genome sequencing of 48 cases.

Study EGAS00001002557

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

Placental_mosaicism

The aim of this study is to survey somatic mutations in human placentas.

Study EGAS00001003549

Wilm's tumor sequencing data

This study shares DNA and RNA sequencing data from Wilm's tumor patients

Study EGAS00001005690

MutWP1__CRUK_Grand_Challenge_Mutographs_of_Cancer__pancreas_LCM_

Samples prepared by LCM - 5 cases for pilot study. Bulk DNA not available.

Study EGAS00001003197

Alveolar Rhabdomyosarcoma sequencing data

This study shares DNA and RNA sequencing data from alveolar rhadbomyosarcoma patients

Study EGAS00001005387

Embryonal Rhabdomyosarcoma sequencing data

This study shares DNA and RNA sequencing data from embryonal rhadbomyosarcoma patients

Study EGAS00001005502

Epithelioid sarcoma sequencing data

This study shares DNA and RNA sequencing data from Epithelioid sarcoma patients

Study EGAS00001005983

Genomic diversity of Vietnamese

This study assess the genomic diversity of 22 ethnolinguistic groups in Vietnam

Study EGAS00001006011

Rhabdoid tumor sequencing data

This study contains sequencing DNA and RNA sequencing data for rhabdoid tumors

Study EGAS00001006351

NHLBI TOPMed: Children's Health Study (CHS) Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP)

The Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP) study was proposed to use an innovative genetics approach in mice and humans to identify novel variants that interact with traffic-related pollutant exposures to affect lung function phenotypes and the risk of childhood asthma. The study participants were enrolled from the original southern California Children's Health Study (CHS). In the TOPMed project, seven Hispanic White participants who did not have asthma history were included in the WGS analysis.

Study phs001602

Normative Aging Study (NAS)

The Normative Aging Study (NAS) is a longitudinal study established by the United States Department of Veterans Affairs in 1963. Participants were male residents and free of chronic disease at the time of recruitment. Participants were invited to undergo an in-person examination every 3-5 years. Participants provided information on medical history, lifestyle and demographic factors and underwent a physical examination and laboratory tests, at each visit. Participants provided written informed consent at each visit, and the VA Boston Healthcare System Institutional Review Board approved the study.

Study phs000853

Intergenerational Impact of Genetic and Psychological Factors on Blood Pressure (InterGEN Study)

This research study focuses on the genomic and psychological environmental effects on blood pressure among mothers and their children. The study includes 250 mothers who self-identify as AA/black, and 250 children between the ages of 3 and 5 years old at the time of enrollment. The study is longitudinal and data collection interviews are scheduled every six months for two years after enrollment, for a total of four participant interviews. Assessment is as follows: genetic (time 1 only) and psychological factors (every six months for two years).

Study phs001792

Multi-Omics Study of Lung Cancer in Smokers From EAGLE

EAGLE (Environment And Genetics in Lung cancer Etiology) is a population-based case-control study examining the full spectrum of lung cancer etiology from smoking initiation, smoking dependency to lung cancer development and outcome. It combines a traditional molecular epidemiology design with more integrative approaches by examining epidemiological, molecular, and clinical data together. To comprehensively investigate the effect of tobacco smoking behaviors on genomic or epigenomic alterations, we performed a multi-omics study including whole-genomic, transcriptomic, and epigenomic profiles in a total of 221 individuals from the EAGLE study.

Study phs002992

A Prospective Study of the Oral Microbiome and Pancreatic Cancer

Two prospective cohort studies - the Black Women's Health Study and the Southern Community Cohort Study - were used to investigate the oral microbiome in relation to pancreatic cancer risk. Using a nested case-control study design, 148 cases and 510 matched controls were included (122 Black American pancreatic cancer cases and 409 matched controls). DNA was extracted from oral wash samples, using the PowerSoil Pro kit. Paired-end whole metagenomic shotgun sequencing was performed, using the Illumina HiSeq2000 platform with a read length of 100 bp (insert size 350 bp).

Study phs002454

WTCCC case-control study for Hypertension

WTCCC genome-wide case-control association study for Hypertension (HT) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

Study EGAS00000000009

ADCC Pilot RNAseq Study on Posterior Cingulate Astrocytes in Alzheimer's Disease

In this study, RNA sequencing was performed on astrocytes microdissected from the posterior cingulate cortex of Alzheimer's disease subjects and healthy elderly controls.

Study phs000745

Whole-exome variant calling of individuals from the study of familial pulmonary fibrosis in the Canary Islands

Research study of rare genetic variants associated with familial cases of pulmonary fibrosis in patients and relatives from Canary Islands, Spain.

Study EGAS50000000782

Whole exome sequencing study of cholesteatoma patients from affected families

This study used whole exome sequencing on 21 patients with cholesteatoma from 10 families in order to identify variants that may attribute to cholesteatoma aetiology.

Study EGAS00001006147

TB-DAR Whole Genome Sequencing Study

116 Whole Genome Sequencing (WGS) samples from the TB-DAR study, which consists of a cohort of adult pulmonary tuberculosis patients recruited in Dar es Salaam, Tanzania.

Study EGAS00001005850

Warm_Autopsy_Single_Cell_X10

Study of cell lineage and embryogenesis using biopsy samples from sites across the whole body (post mortem). Sample donors are recruited sensitively through the Phoenix study and consent to samples being taken after their death for both the Phoenix study and this WTSI study.

Dataset EGAD00001003240