Search Results - EGA European Genome-Phenome Archive

Chromatin run-on and RNA sequencing of fibrolamellar carcinoma

Fibrolamellar carcinoma (FLC) is a rare, therapeutically intractable liver cancer that disproportionately affects youth. Here we used chromatin run-on sequencing to characterize the enhancer landscape in FLC and RNA sequencing to identify dysregulated genes in FLC.

Study EGAS00001004169

Australia

Australia Multiple Sclerosis cases and controls

Dataset EGAD00010002117

Health and Retirement Study (HRS)

Introduction to V2: This data release comprises data from the V1 release combined with approximately 3,000 additional samples, collected during the HRS 2010 field period. The 2010 data include samples from a random half of the new cohort enrolled in 2010 along with a significant expansion of the minority sample. Description: The University of Michigan Health and Retirement Study (HRS) is a longitudinal panel study that surveys a representative sample of approximately 20,000 people in America over the age of 50 every two years. Supported by the National Institute on Aging (NIA U01AG009740) and the Social Security Administration, the HRS explores the changes in labor force participation and the health transitions that individuals undergo toward the end of their work lives and in the years that follow. The study collects information about income, work, assets, pension plans, health insurance, disability, physical health and functioning, cognitive functioning, and health care expenditures. Through its unique and in-depth interviews, the HRS provides an invaluable and growing body of multidisciplinary data that researchers can use to address important questions about the challenges and opportunities of aging. Because of its innovation and importance, the HRS has become the model and hub for a growing network of harmonized longitudinal aging studies around the world. Origins of the HRS. As the population ages it is increasingly important to obtain reliable data about aging and topics that are relevant to a range of policy issues in aging. To address this need, the National Institutes on Aging (NIA) established a cooperative agreement with the University of Michigan Institute for Social Research to collect such data. The HRS launched data collection in 1992 and has re-interviewed the original sample of respondents every two years since then. By adding new cohorts and refreshing the sample, the HRS has grown to become the largest, most representative longitudinal panel study of Americans 50 years and older. HRS Study Design. The target population for the original HRS cohort includes all adults in the contiguous United States born during the years 1931-1941 who reside in households, with a 2:1 oversample of African-American and Hispanic populations. The original sample is refreshed with new birth cohorts (51-56 years of age) every six years. The sample has been expanded over the years to include a broader range of birth cohorts as well. The target population for the AHEAD survey consists of United States household residents who were born in 1923 or earlier. Children of the Depression (CODA) recruits households born 1924-1930, War Babies 1942-47, Early Boomers 1948-53, and Mid-Boomers 1954-59. Data collection includes a mixed mode design combining in-person, telephone, mail, and Internet. For consenting respondents, HRS data are linked at the individual level to administrative records from Social Security and Medicare claims. Genetic Research in the HRS. The HRS has genotyped 2.5 million single nucleotide polymorphisms (SNPs) on respondents using Illumina's Human Omni2.5-Quad (Omni2.5) BeadChip. The genotyping was performed by the NIH Center for Inherited Disease Research (CIDR). Saliva was collected on half of the HRS sample each wave starting in 2006. In 2006, saliva was collected using a mouthwash collection method. From 2008 onward, the data collection method switched to the Oragene kit. Saliva completion rates were 83% in 2006, 84% in 2008, and 80% in 2010 among new cohort enrollees. HRS Phenotypic data. Phenotypic data are available on a variety of dimensions. Health measures include physical/psychological self-report, various health conditions, disabilities, cognitive performance, health behaviors (smoking, drinking, exercise), physical performance and anthropomorphic measures, and biomarkers (HbA1c, Total Cholesterol, HDL, CRP, Cystatin-C). Data are also available on health services including utilization, insurance and out-of-pocket spending with linkage to Medicare records. Economic measures include employment status/history, earnings, disability, retirement, type of work, income by source, wealth by asset type, capital gains/debt, consumption, linkage to pensions, Social Security earnings/benefit histories. There is also extensive information on family structure, proximity, transfers to/from of money, time, social and psychological characteristics, as well as a wide range of demographics. Performance on a cognitive test combining immediate and delayed word recall was selected as an example trait for the dbGaP data release. In the immediate word recall task the interviewer reads a list of 10 nouns to the respondent and asks the respondent to recall as many words as possible from the list in any order. After approximately five minutes of asking other survey questions, the respondent is asked to recall the nouns previously presented as part of the immediate recall task. The total recall score is the sum of the correct answers to these two tasks, with a range of 0 to 20. Researchers who wish to link to other HRS measures not in dbGaP will be able to apply for access from HRS. A separate Data Use Agreement (DUA) will be required for linkage to the HRS data. See the HRS website (http://hrsonline.isr.umich.edu/gwas) for details.

Study phs000428

E05-Bioenvironmental Psychiatry

The Bio-Environmental Psychiatry Group is made up of a group of clinical (psychiatry, neuroradiology) and basic (biology) researchers. The objective of our activity is the identification of determinants of mental disorders with the aim of devising interventions that improve the quality of life of patients with mental disorders. Our fields are the prediction of mental disorder, the premorbid and precise diagnosis of mental disorder, the identification of bio-environmental markers and the personalization of treatments. We also work with specific disorders such as Delusional Disorder, OCD, depression and personality disorders.

Dac EGAC50000000222

Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis (MICEPAP) Trial

The purpose of this study is to (1) compare a technically improved assay with an existing assay used to measure serum anti-GM-CSF antibodies in stored serum samples previously obtained from patients diagnosed with either primary, secondary, congenital or idiopathic pulmonary alveolar proteinosis (PAP), other chronic diseases or disease-free, healthy individuals; (2) determine the prevalence and levels of anti-GM-CSF autoantibodies and (3) define the breadth of the autoimmune antibody responses in primary PAP patients from the United States, Japan, Australia, and Europe using previously collected serum samples; and (4) using a chart review approach, compare the clinical, radiologic and laboratory features of primary PAP patients to determine if differences exist among patients in these globally geographically distributed regions.

Study phs001309

NAR-GAB 2025 deposit data

Human exome gVCFs: rare-disease cohort for the NAR-GAB 2025 study on splicing-SNV prioritization.

Study EGAS50000001456

Reference exome data for Australian Aboriginal populations to support health-based research

Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the translation of health-based genomic research. Here we provide a catalogue of variants called after sequencing the exomes of 50 Aboriginal individuals from the Northern Territory (NT) of Australia and compare these to 72 previously published exomes from a Western Australian (WA) population of Martu origin. Sequence data for both NT and WA samples were processed using an ‘intersect-then-combine’ (ITC) approach, using GATK and SAMtools to call variants. A total of 289,829 variants were identified in at least one individual in the NT cohort and 248,374 variants in at least one individual in the WA cohort. Of these, 166,719 variants were present in both cohorts, whilst 123,110 variants were private to the NT cohort and 81,655 were private to the WA cohort. Our data set provides a useful reference point for genomic studies on Aboriginal Australians.

Study EGAS00001003745

The Genetic Basis of Aggressive Prostate Cancer, The Role of Rare Variation

In this study, we will apply a multi-staged approach to reveal genes harboring rare variants that are associated with aggressive PCa. Whole-exome sequencing (Aim 1a) of 2,774 aggressive cases and 2,776 non-aggressive cases of European ancestry will be conducted followed by rare variant analysis of single sites and gene burden testing to identify novel susceptibility loci/genes for aggressive disease. We will validate the most significantly associated genes (~500) through targeted sequencing in an additional 6,415 aggressive and 5,586 non-aggressive cases and 1,890 controls (Aim 1b). Next, we will investigate the clinical predictive utility of the genes/variants identified in 2,291 cases in the STHM3 trial who are undergoing biopsy based on PSA and genetic risk score stratification (Aim 2). Through this tiered approach we expect to significantly advance knowledge of aggressive PCa etiology and health disparities as well as guide the development of early detection and prognostic strategies for the subset of men who are most susceptible to this fatal form of disease. In this case-case study of aggressive vs non aggressive prostate cancer, aggressive cases are defined as prostate cancer as cause of death, (T4 disease or T3 disease) and Gleason 8+. Non-aggressive cases are men with T1/2 disease and Gleason ACKNOWLEDGMENTS and CONTRIBUTING SITES CAPS, PROCAP, STHM1, STHM2: Swedish Cancer Society (CAN 2016/818), Swedish Research Council (2014/2269).STHM3: Stockholm County Council (Stockholms Läns Landsting).MEC: Funding provided by the National Cancer Institute: Understanding Ethnic Differences in Cancer, 2U01CA164973 and The Genetic Basis of Aggressive Prostate Cancer, The Role of Rare Variation, 5R01CA196931-02.ATBC: The ATBC Study is supported by the Intramural Research Program of the U.S. National Cancer Institute, National Institutes of Health, and by U.S. Public Health Service contract HHSN261201500005C from the National Cancer Institute, Department of Health and Human Services.COSM: The Swedish Research Council/National Research Infrastructure Grant (VR 2014/6397; VR 2015/5997) The Swedish Cancer Foundation (CAN 2013/456; CAN 2016/727)CPSII: The authors express sincere appreciation to all Cancer Prevention Study II participants and to each member of the study and biospecimen management group. The American Cancer Society funds the creation, maintenance, and updating of the Cancer Prevention Study-II cohort.MCCS/APCS/PCFS: The Melbourne Collaborative Cohort Study (MCCS) recruitment was funded by VicHealth and Cancer Council Victoria and further supported by Australian National Health and Medical Research Council (NHMRC) grants 209057 and 396414. The Aggressive Prostate Cancer Case-Control Study (APCS) was funded by NHMRC grant 623204. The Prostate Cancer Family Study (PCFS) was fully funded by Cancer Council Victoria. Cancer Council Victoria funds the continuing maintenance and updating of the MCCS, APCS and PCFS. Cases and their vital status are ascertained and followed up through the Victorian Cancer Registry and the Australian Institute of Health and Welfare, including the National Death Index and the Australian Cancer Database.PLCO: The Prostate Lung Colorectal Ovarian Cancer Screening Trial (PLCO) was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics and by contracts from the Division of Cancer Prevention, National Cancer Institute, US National Institutes of Health, Department of Health and Human Services. EPIC: The coordination of EPIC is financially supported by International Agency for Research on Cancer (IARC) and also by the Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London which has additional infrastructure support provided by the NIHR Imperial Biomedical Research Centre (BRC). The national cohorts are supported by: Danish Cancer Society (Denmark); Ligue Contre le Cancer, Institut Gustave Roussy, Mutuelle Générale de l'Education Nationale, Institut National de la Santé et de la Recherche Médicale (INSERM) (France); German Cancer Aid, German Cancer Research Center (DKFZ), German Institute of Human Nutrition Potsdam- Rehbruecke (DIfE), Federal Ministry of Education and Research (BMBF) (Germany); Associazione Italiana per la Ricerca sul Cancro-AIRC-Italy, Compagnia di SanPaolo and National Research Council (Italy); Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands (The Netherlands); Health Research Fund (FIS) - Instituto de Salud Carlos III (ISCIII), Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, and the Catalan Institute of Oncology - ICO (Spain); Swedish Cancer Society, Swedish Research Council and County Councils of Skåne and Västerbotten (Sweden); Cancer Research UK (14136 to EPIC-Norfolk; C8221/A19170 and C8221/A29017 to EPIC-Oxford), Medical Research Council (1000143 to EPIC-Norfolk; MR/M012190/1 to EPIC-Oxford). (United Kingdom). DFCI: Linda and Arthur Gelb and Rebecca and Nathan Milikowsky. HPFS and PHS: The Health Professionals Follow-up Study was supported by U01 167552 and P01 CA228696 from the National Cancer Institute, and with support from the Prostate Cancer Foundation. The Physicians' Health Study was supported by grants CA34944, CA40360, CA097193, HL26490 and HL34595.Northwestern: P50CA180995 (Catalona) 08/01/15 – 07/31/20 NIH/NCI SPORE in Prostate Cancer; The Urological Research FoundationPROMPT: MRC UK - Project reference G0500966, Cambridge BRC infrastructure funding, Cambridge Biomedical Research Campus (BRC-1215-20014), CRUK Cambridge Cancer Centre infrastructure funding (they are requesting this statement is written in blue for publications).ICR: This work was supported by the NIH R01 grant 5R01CA196931-02. The samples from the UK were from UKGPCS and PrompT. The UKGPCS study was supported by Cancer Research UK (grant numbers C5047/A7357, C1287/A10118, C1287/A5260, C5047/A3354, C5047/A10692, C16913/A6135 and C16913/A6835). We would like to acknowledge the NCRN nurses and Consultants for their work in the UKGPCS study. We thank all the patients who took part in this study. We also acknowledge The Institute of Cancer Research, The National Cancer Research Network UK, The National Cancer Research Institute (NCRI) UK for their ongoing support. We are grateful for support of NIHR funding to the NIHR Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust.Funding:CIDR grant X01HG008336

Study phs001524

GECCO: Detecting Common and Rare Genetic Loci and GxE Interactions in Colorectal Cancer

COLON, Colorectal Cancer: Longitudinal Observational study on Nutritional and lifestyle factors that influence colorectal tumor recurrence, survival and quality of life: The COLON study is a multi-center prospective cohort study to assess the role of diet and other lifestyle factors in cancer recurrence and survival among incident colorectal cancer patients in the Netherlands. DACHS, Darmkrebs: Chancen der Verhütung durch Screening:This German study was initiated as a large population-based case-control study in 2003 in the Rhine-Neckar-Odenwald region (southwest region of Germany) to assess the potential of endoscopic screening for reduction of colorectal cancer risk and to investigate etiologic determinants of disease, particularly lifestyle/environmental factors and genetic factors. During an in-person interview, data were collected on demographics, medical history, family history of CRC, and various life-style factors, as were blood and mouthwash samples. EPIC, European Prospective Investigation into Cancer: EPIC is an on-going multicenter prospective cohort study designed to investigate the associations between diet, lifestyle, genetic and environmental factors and various types of cancer. HPFS, Health Professionals Follow-up Study: HPFS is a parallel prospective study to the NHS. The HPFS cohort comprised 51,529 men aged 40-75 who, in 1986, responded to a mailed questionnaire. Participants provided information on health related exposures, including current and past smoking history, age, weight, height, diet, physical activity, aspirin use, and family history of colorectal cancer. Colorectal cancer and other outcomes were reported by participants or next-of-kin and were followed up through review of the medical and pathology record by physicians. Overall, more than 97% of self-reported colorectal cancers were confirmed by medical record review. Information was abstracted on histology and primary location. Follow-up evaluation has been excellent, with 94% of the men responding to date. NHS, Nurses' Health Study: The NHS cohort began in 1976 when 121,700 married female registered nurses age 30-55 years returned the initial questionnaire that ascertained a variety of important health-related exposures [PMID:248266]. Since 1976, follow-up questionnaires have been mailed every 2 years. Colorectal cancer and other outcomes were reported by participants or next-of-kin and followed up through review of the medical and pathology record by physicians. Overall, more than 97% of self-reported colorectal cancers were confirmed by medical-record review. Information was abstracted on histology and primary location. The rate of follow-up evaluation has been high: as a proportion of the total possible follow-up time, follow-up evaluation has been more than 92%. NQplus, Nutrition Questionnaires plus: NQplus is a longitudinal observational study on diet and health in the general Dutch population.

Study phs001315

Variants Derived From Kids Heart BioBank TOF Probands (Australia)

Short variants identified in 245 TOF probands enrolled through the Kids Heart BioBank (Australia).

Dataset EGAD50000000839

Female Infertility: Primary Ovarian Insufficiency

Premature ovarian failure, or primary ovarian insufficiency (POI) is a phenotype of diminished or absent ovarian function occurring in 1-2% of reproductive aged women. Most cases occur spontaneously. Evaluation of the gametes in women with POI is difficult and invasive. Practitioners must often rely on indirect biomarkers of ovarian function and oocyte health, making it difficult to identify patients who may benefit from therapies allowing them to achieve pregnancy utilizing their own oocytes. This study will generate exome sequences from POI patients in an effort to elucidate the causes of unexplained POI and to better understand the normal processes of ovarian aging. A better understanding of the genetics of ovarian function may lead to new non-invasive tools for managing women's reproductive health, and direct better use of existing biomarkers in diagnosis, screening and predicting clinical outcomes.

Study phs001174

International Multi-Center ADHD Genetics Project

The goal of the project is to complete a 600,000 tag SNP genome-wide association scan of 958 parent-child trios from the International Multisite ADHD Genetics (IMAGE) project, in order to assess the association of SNP markers with ADHD, analyze quantitative ADHD phenotypes, complete copy number analyses, assess parent of origin effects and season of birth effects, and test for epistasis among apparently uncorrelated genes. Acquiring DNA Samples All consent forms stipulate that the samples can only be used by researchers who have been approved by the National Institute of Mental Health (NIMH), National Institutes of Health. All consent forms, except those used at the Zürich site (N=141 subjects), explicitly indicate that the samples may be used by researchers from commercial enterprises seeking to benefit financially from the analysis of the samples. The Zürich consent does not prohibit such use. The Zürich consent form also included an "opt out" that allowed the subjects to indicate that they did not want their samples stored at the NIMH repository or used by researchers external to the project. No subjects enrolled in the project opted out. Consent groups and participant set ADHD (ADHD): 2758 (924 trios)

Study phs000016

Genetic Analysis of Parkinson's Disease

A portion of the sample includes multiplex PD families recruited as part of a previously funded study (R01NS037167; PI: Tatiana Foroud). Families were ascertained initially through a living affected sibling pair. Subsequently, ascertainment was loosened to include PD probands having a positive family history of PD in a first degree relative, who was not required to be part of the study. All individuals completed an in-person evaluation at one of the > 65 Parkinson Study Group sites participating in this study. Individuals completed a detailed evaluation that included the Unified Parkinson Disease Rating Scale (UPDRS), Mini-Mental State Examination (MMSE), Geriatric Depression Scale (GDS) and a diagnostic checklist that implemented the UK PD Brain Bank inclusion and exclusion criteria. An autopsy program was established in this study and brain tissue for confirmation of diagnosis and further experimental study are available from over 100 participants. Autopsy confirmation of the PD diagnosis was nearly 100% for those who met UK PD Brain Bank criteria. In addition, because this was a cross sectional study and family members were often seen very early in disease course, among those who did not meet UK PD Brain Bank criteria but had a subsequent autopsy, a significant subset (>1/3) had autopsy confirmation of PD. The second source of samples is from the NINDS Human Genetics DNA and Cell Line Repository located at the Coriell Institute. Currently DNA from 4,509 PD patients is available from the Coriell Institute. We restricted the selected sample to include only Caucasians and ensured there was no overlap with samples contributed by the PROGENI Study.

Study phs001004

A Genomic History of Aboriginal Australia

The population history of Aboriginal Australians remains largely uncharacterised. We generated high-coverage genomes for 83 Aboriginal Australians (speakers of Pama-Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified 25-40 thousand years ago (kya), suggesting early population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all studied Aboriginal Australians descend from a single founding population that differentiated ~10-32 kya. We infer a population expansion in northeast Australia during the Holocene (past c.10 kya) associated with limited gene flow from this region to the rest of Australia consistent with the spread of the Pama-Nyungan languages. We estimate that Aboriginal Australians and Papuans diverged from Eurasians 51-72 kya, following a single out of Africa dispersal, and subsequently admixed with different archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert.

Study EGAS00001001766

STAMPEED: Northern Finland Birth Cohort 1966 (NFBC1966)

The Northern Finland Birth Cohorts program (NFBC) was initiated in the 1960s in the two northernmost provinces of Finland to study risk factors involved in pre-term birth and intrauterine growth retardation, and the consequences of these early adverse events on subsequent morbidity and mortality. The uniqueness of NBFCs is that the data of the cohorts were obtained from early fetal life (including maternal health during pregnancy) to adulthood. The NFBC1966 includes 12,058 live births to mothers in the two northern-most provinces of Finland. Two decades later, a second cohort of 9432 births was obtained (NFBC1986). In NFBC1966 pregnancies were followed prospectively from the first antenatal contact (10-16th week). After birth, the offspring were examined and then again underwent clinical evaluation at ages 1y, 7y, 14-16y and 31y. At each visit, a wide range of phenotypic, lifestyle and demographic data were gathered by questionnaires and clinical examinations. For the most part, NFBC1986 has undergone similar evaluations to NFBC1966. Linkage to national registries includes hospitalization, deaths, education, medication, pensions, and provides up-to-date demographic and clinical information for members of both cohorts. DNA samples were obtained from 5,923 subjects from NFBC1966 and 6688 subjects from NFBC1986. Data coverage, 96% of all births in 1966 and 99% in 1986, is highly representative for the whole population. The NFBC program comprises more than 20 different projects coordinated by the Center of Lifecourse Disease studies in Northern Finland (COLD) at Oulu University. The prospective data collected from the NFBCs form a unique resource, allowing the study of disease emergence, and of the importance of genetic, biological, social and behavioral risk factors. The genome-wide association (GWA) study sponsored through the STAMPEED program of NHLBI employed genomic DNA samples previously collected by the NFBC1966 study and stored in the DNA repository of the National Institute for Health and Welfare, Finland. This NHLBI sponsored RO1 project aimed to identify genetic variants contributing to metabolic and cardiovascular diseases (CVD). In addition to de-identified genome wide genotypic data, a selected list of phenotypic data related to CVD including weight, height, BMI, HDL, LDL, total cholesterol, triglyceride, glucose, insulin and fasting status, are also available in dbGaP. A summary of the GWAS for the NFBC1966 cardiovascular risk traits can be found in Sabatti et al., Nature Genetics 41: 35-46, 2009, PMID: 19060910. The version 2 release of this study contains sequence data from seventeen loci associated with levels of triglyceride, HDL-C, LDL-C, total cholesterol, fasting plasma glucose, and fasting plasma insulin (Kathiresan et al. 2008, Willer et al. 2008, Sabatti et al. 2009, Dupuis et al. 2010, Teslovich et al. 2010). At each locus, protein-coding regions and 5' and 3' untranslated regions of genes nearest to single nucleotide polymorphisms showing genome-wide significant association with metabolic syndrome-related traits, were sequenced. Targeted Illumina sequencing of 78 genes (~270kb) using 150bp probes was performed on 4943 subjects of the Northern Finland Birth Cohort 1966 (NFBC1966). Whole exome sequencing on the Illumina platform was carried out on 586 of those participants. The sequencing study is part of a larger project that is funded by the National Human Genome Research Institute's Allelic Spectrum in Common Disease Initiative, and comprises sequence data from more than 7000 individuals in two Finnish cohorts: NFBC1966 and the Finland-United States Investigation of NIDDM Genetics (FUSION) study.

Study phs000276

Lifestyle, Infertility, Fertility, and Evaluation (LIFE) Study

The purpose of this study is to provide a reference profile of small extracellular RNAs in body fluids. These samples were originally obtained in a study that had a different purpose. The purpose of the original study was to establish a data and biological specimen repository to advance future research into male reproductive health and urologic health. Semen from semen analyses, as part of standard of care at the Center for Reproductive Health, was collected and stored in a tissue bank for future research purposes. These samples and associated clinical data (including age, race, education level, medical history and diet, environmental exposures and laboratory values, fertility diagnosis and infertility treatments) will help researchers understand any urological disorders and male reproductive health issues.

Study phs001692

Thymic epithelial transplantation for complete DiGeorge syndrome Spatial (2025-07-28)

Spatial transcriptomics study of thymic transplant biopsies . This dataset contains all the data available for this study on 2025-07-28.

Dataset EGAD00001015659

NHLBI TOPMed: Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE)

Started in 2007, the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity (SAPPHIRE) is one of the largest asthma cohort studies in the United States. Its overarching goal is to elucidate the genetic underpinnings of asthma and asthma medication treatment response. The cohort was recruited from a large health care system serving southeast Michigan and the Detroit metropolitan area, and the participants broadly represent the demographic and socioeconomic diversity of the region. Control participants (i.e., patients without a diagnosis with asthma) were recruited from the same health system and geographic region. By virtue of their health system enrollment, both asthma case and control patients have longitudinal clinical information which was routinely collected as part of their care. Both case and control patients underwent at detailed evaluation at the time of enrollment which included lung function testing and bronchodilator response. The SAPPHIRE cohort is a member of the Asthma Translational Genomics Collaborative (ATGC). The latter was selected for whole genome sequencing in Phase 3 of the National Heart Lung and Blood Institute's TOPMed Program. The SAPPHIRE sample selected for sequencing includes African American and/or Latino individuals with and without asthma.

Study phs001467

Thymic epithelial transplantation for complete DiGeorge syndrome: RNA (2025-10-02)

Single cell transcriptomics study of thymic transplant biopsies . This dataset contains all the data available for this study on 2025-10-02.

Dataset EGAD00001015721

Genotype-Tissue Expression (GTEx) (2025-07-28)

Dual snRNAseq and ATACseq of replicate PBMC samples for 10X beta testing. . This dataset contains all the data available for this study on 2025-07-28.

Dataset EGAD00001015663

PROGRESS/ELEMENT DNA Methylation Study

An extension to the Early Life Exposures in Mexico to Environmental Toxicants (ELEMENT) birth cohort of Mexico City, the Programming Research in Obesity, GRowth, Environment and Social Stress (PROGRESS) Cohort is an ongoing longitudinal pre-birth cohort, established in 2006 in Mexico City, partnering Icahn School of Medicine at Mount Sinai with Harvard University and the National Institute of Public Health in Mexico, which was designed to study the effects of prenatal exposure to toxic metals, air pollution, phthalates, and stress on childhood development. Pregnant women of 18 years of age and older, pregnant for less than 20 weeks of gestation, had no documentation of heart or kidney disease, no use of steroids or anti-epilepsy drugs, no daily alcohol consumption, had telephone access, and planned to live in Mexico city for the following 3 years, and receiving care through the Mexican Social Security System were initially enrolled (n=1,054). In addition to clinical, demographic and exposure data collected, cord blood was collected to interrogate DNA methylation across the genome for over 300 mother-child dyads. Clinical assessments and exposures were captured during several life stages, including prenatal, infant (0-1 year), youth (1-18 years), and adulthood (mother). The PROGRESS cohort added well-documented phenotyping of children for obesity, metabolic dysfunction, respiratory outcomes, and cardiovascular outcomes, as well as measures of air pollutant, personal care/consumer product, non-chemical stress, and metal mixture exposures. No clinical trials were conducted in this cohort. The data collected in this study should provide a unique resource to investigate DNA methylation as it relates to several environmental exposures and adverse cardiometabolic and neurocognitive health in mothers and children from a prospective birthing cohort. For access to demographic, clinical, and exposure data please directly contact study principal investigators.

Study phs002754

Spatially resolved cellular and molecular drivers of cardiac remodelling in healthy and failing human hearts: Adult DNA (2025-10-16)

Human Cell Atlas - WGS Adult Heart . This dataset contains all the data available for this study on 2025-10-16.

Dataset EGAD00001015751

1169 results for "NHMRC+youth+mental+health+evaluation+2010..2025+Australia"

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