14455 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• The Precision Medicine in Liver Cancer across an Asia-pacific NETwork (PLANET)

  Hepatocellular carcinoma (HCC) is the 2nd most important cause of cancer deaths in the world. The outcomes of treatment in HCC are poor compared to other common cancers because there are no good systemic therapy drugs. We designed a prospective study that will involve 5 different sites within the established Asia-Pacific Hepatocellular Carcinoma Trials Group to study both the genetics as well as immune profiles of HCC in different ethnicities. In this study, patients will be followed-up and at recurrence the tissues to understand the evolution of disease progression. Here, we presented both the genomic (DNA) and phenotypic (RNA) evolution for the first batch of 56 patients. The detailed findings will be listed in the corresponding publication soon.

  Study EGAS00001003813

• Comprehensive Molecular Analysis of Colon Cancer for the Identification and Validation of New Biomarkers

  This study aims to identify diagnostic and prognostic biomarkers in colon cancer and to study understand the complex genomic, genetic and epigenetic relationships with a multiomic approach. The study includes tumor and paired normal mucosa of 100 colon cancer patients diagnosed at stage II, untreated and with microsatellite stable tumours. Also 50 normal mucosa samples from healthy donors are included as reference. The samples have been analysed for gene expression with Affymetrix U219 array (available at GEO GSE44076), SNP/CNV with the Affymetrix 6.0 Human SNP array, for DNA methylation with the Illumina 450K array. Small RNAs were sequenced with the Solid technology and 42 of the tumours and paired normal mucosa DNA were whole exome sequenced with Illumina Genome Analyzer.

  Study EGAS00001002453

• The Breast and Prostate Cancer Cohort Consortium (BPC3) GWAS of Aggressive Prostate Cancer and ER- Breast Cancer

  The Breast and Prostate Cancer Cohort Consortium (BPC3) was established in 2003 to pool data and biospecimens from nine large prospective cohorts to conduct research on gene-environment interactions in cancer etiology. The BPC3 initially focused on the association of >70 candidate genes in the Steroid Hormone Metabolism and IGF pathways with risk of breast and prostate cancer. The Consortium's work expanded in 2007 to include genome-wide association studies of estrogen receptor negative (ER-) breast cancer and aggressive prostate cancer. ER- breast cancers have specific epidemiologic characteristics and greater lethality, suggesting ER- breast cancer has a different etiology than ER+ breast cancer. Similarly, aggressive forms of prostate cancer, characterized by extraprostatic extension (Stage C/D) or high histologic grade (Gleason score 8+), differ epidemiologically from the vastly more common indolent forms of prostate cancer and are of the greatest clinical importance. By restricting cases to these specific subtypes, the BPC3 GWAS increased power to detect loci associated with ER- and aggressive prostate cancer (Kraft P and Haiman CA, Nature Genetics 2010 Oct;42:819-20, PMID: 20877320 ). The BPC3 GWAS includes the following cohorts: the American Cancer Society Cancer Prevention Study-II (CPS-II); the European Prospective Investigation of Cancer (EPIC); the Physician's Health Study (PHS); the Nurses' Health Studies I and II (NHS and NHSII); the Health Professionals Follow-up Study (HPFS); the Multiethnic Cohort (MEC); the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial; and the Alpha-Tocopherol, Beta-Carotene (ATBC) Study. For the GWAS of ER- cancer, the BPC3 was expanded to include the Polish Breast Cancer Study (PBCS), a population-based case-control study.

  Study phs000812

• The EVE Asthma Genetics Consortium: Building Upon GWAS

  The EVE Asthma Genetics Consortium comprises U.S. investigators who have conducted genome-wide association studies (GWAS) of asthma; the main objective is to combine results of individual studies to increase the overall power to identify loci for asthma and asthma-associated traits. The consortium includes investigators at 9 U.S. institutions with GWAS results for >10,000 individuals representing European American, African American, African Caribbean, U.S. Hispanic, and Mexican populations and includes the following studies: The Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE) The Genetic Research on Asthma in the African Diaspora (GRAAD) Study The Genetics of Asthma in Latino Americans (GALA 1) Study The Childhood Asthma Management Program (CAMP) The Childhood Asthma Research and Education (CARE) Network The Children's Health Study (CHS) Mexico City Childhood Asthma Study (MCCAS) The Chicago Asthma Genetics Study (CAG)* The National Heart, Lung, and Blood Institute Collaborative Studies of the Genetics of Asthma (CSGA)* The Severe Asthma Research Program (SARP)* (*CAG, CSGA, and SARP are part of the NHLBI-supported SNP Typing for Association with Multiple Phenotypes from Existing Epidemiologic Data (STAMPEED) consortium.) For the GWAS, we developed a common set of >1 million genotyped and imputed SNPs from the EVE Asthma Genetics Consortium to be tested for association with asthma and associated phenotypes in all samples and combined p-values for a grand meta-analysis for asthma gene discovery. A subset of 296 individuals representing African American, European American, and Latino ancestry were selected for whole genome sequencing. The broad goals of this project were to characterize the genetic architecture of asthma and associated quantitative phenotypes (e.g., lung function, total serum IgE) in ethnically diverse populations from the U.S., Mexico, Puerto Rico, and Barbados.

  Study phs001156

• Newborn Screening Translational Research Network (NBSTRN): Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2)

  Large-scale studies of whole genome sequencing (WGS) in neonates have largely been neglected. Thus, the clinical and social implications of this absence are largely unknown. The proposed study aims to increase scientific knowledge for acutely ill neonates. This population may stand to benefit largely from WGS given the severity of illness. The proposed clinical study is a prospective, randomized, partially-blinded study that has both quantitative and qualitative assessments of the risks and benefits of the use of STATseq, a 2-day genome test, in acutely ill neonates at Children's Mercy Hospital. Study participants include neonates, their parents, and clinicians caring for them. The overall aims will provide a nuanced understanding of the role of rapid diagnostic WGS for acutely ill neonates, including relative diagnostic sensitivity and change in management both for broad NICU populations and subpopulations, accuracy, reproducibility, and relative value of proband WGS and familial triads. The technological aims include improving diagnostic sensitivity without sacrificing the rapid turnaround time. The clinical aims include looking at increased diagnostic yield, shorter time to diagnosis and clinician perception of management changes that result from implementation of STAT-seq. Finally, the study will investigate the perceived value of STAT-seq in parents and clinicians using structural equation modeling. The studies also are designed for long-term continuation of assessment of the enrollees (beyond the current funding period) and in additional sample types (via a biorepository). Long-term continuation studies will test effects on long-term morbidity, mortality, quality of life and cost of care. We hope that the study results will be sufficient to provide an evidence base for physician adoption and provider reimbursement of WGS in Level 3 and 4 NICUs.

  Study phs002094

• Matched breast cancer fusion gene study

  Matched breast cancer fusion gene study

  Dataset EGAD00001000097

• Sequencing data for Australian Ovarian Cancer study submitted 20121116

  Sequencing data for Australian Ovarian Cancer study submitted 20121116

  Dataset EGAD00001000293

• Sequencing data for Australian Pancreatic Cancer study submitted 20130102

  Sequencing data for Australian Pancreatic Cancer study submitted 20130102

  Dataset EGAD00001000323

• Early ctDNA molecular response captures therapeutic response in the first stage of CCTG BR.36 ctDNA-directed, multi-center phase II study of molecular response adaptive immunotherapy in non-small cell lung cancer

  Study EGAS00001007298

• Brain Mapping by Integrated Neurotechnologies for Disease Studies: Human Brain Aging Imaging Study

  Compare the MRI data with amyloid PET images and cognitive data.

  Study JGAS000277