13384 results for ""pdc"+"heritage+language"+census+study"

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• Genomic and transcriptomic analysis on hepatocarcinogenesis after HCV eradication

  Little is known about the genomic and transcriptomic features of hepatocellular carcinoma developing after HCV eradication (SVR-HCC). In this study, we aimed to unveil the genomic and transcriptomic basis of hepatocarcinogenesis after SVR.

  Study JGAS000234

• Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation

  Our study goal is to reveal underlying molecular pathogenesis of Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome, which is characterized by hypomethylation of centromeric/pericentromeric repeats.

  Study JGAS000559

• Genetic analysis in lifestyle-related disease, arteriosclerotic disease, and aging-related diseases.

  Exome sequence analysis was conducted in patients with hypertension (Stage 3). Rare variants in candidate susceptible genes discovered by previous GWASs were prioritised and further analysed for an additional case-control association study.

  Study JGAS000016

• SCLC

  The aim of this study is to use sequence data generated from 500 bp paired end reads using the Illumina platform to characterise the breakpoints of chromosomal translocations, amplifications and deletions at high resolution (to the bp).

  Study EGAS00001000009

• Picuris Pueblo oral history and genomics reveal continuity in US Southwest

  Following the decision of Picuris Pueblo to study their population history using DNA, this project generated 16 ancient and 13 present-day genomes from the Pueblo, spanning 1,000 years of history.

  Study EGAS50000000855

• Genome_wide_CRISPR_Cas9_screening_of_Human_Organoids

  In this study we will exploit the bacterial clustered regularly interspaced short palindromic repeats (CRISPR) system to perform a genome-wide single-guide RNA (sgRNA) library to screen for genes required for proliferation and survival in human organoids.

  Study EGAS00001001932

• Raw sequencing of single-cell RNA-seq data of a phase II clinical trial (NCT03419481)

  This is a single-arm Phase II trial of pembrolizumab in patients with hepatitis B virus-related hepatocellular carcinoma with parallel study on baseline and serial change in the immune environment.

  Study EGAS50000001315

• Whole transcriptome seq from patient samples

  Exome sequencing data from FFPE preserved patient samples and patient-derived cultures. The goal of the study is to validate patient-derived cultures. Additional goal is to understand the relationship between omics and drug response.

  Study EGAS50000000172

• Y_chromosome_mis_segregation_in_the_DLD_1_cell_line

  Study of the well-established DLD-1 colorectal cancer cell line, engineered with an inactivatable Y centromere that leads to mis-segregation. The goal is to gain insights into the mechanism of chromothripsis due to chromosome mis-segration.

  Study EGAS00001002551

• Transcriptome_Sequencing_of_Cancer_Cell_Lines

  In this study we will sequence the transcriptome of Verified Cancer Cell lines. This will be married up to whole exome and whole genome sequencing data to establish a full catalog of the variations and mutations found.

  Study EGAS00001000261

• RNA seq of MPNST tumour samples

  RNA sequencing of 10 MPNST tumour samples as part of a larger study of MPNST. Article: Lyskjær et al, 2020, J Pathol, "H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours".

  Study EGAS00001004528

• Human lymphoma plasma cfRNA - raw data

  This study contains total RNA sequencing data from plasma of 65 different human donors: 30 diffuse large B-cell lymphoma patients, 13 primary mediastinal large B-cell lymphoma patients and 22 cancer-free controls.

  Study EGAS00001007127

• Genomic and Transcriptomic Profile of Paired Primary-Metastasis Colorectal Tumors

  The goal of this study is to identify mechanisms of metastization in a portuguese cohort of colorectal cancer. Namely, we want to identify patterns of genomic and transcriptomic diversification associated with metastasis.

  Study EGAS00001005276

• Machine learning guided signal enrichment for ultrasensitive plasma tumor burden monitoring

  Development of a novel machine learning guided ctDNA detection platform for use in liquid biopsy detection and therapeutic monitoring of solid tumors in several clinical contexts. Included are WGS alignments from our study.

  Study EGAS00001007306

• Biomarker Data from KATHERINE: A Phase III Study of Adjuvant Trastuzumab Emtansine versus Trastuzumab in Patients with Residual Invasive Disease after Neoadjuvant Therapy for HER2-Positive Breast Cancer

  Study EGAS00001006229

• Genentech gallbladder cancer study - RNA-seq

  Genentech gallbladder cancer study - RNA-seq

  Dataset EGAD00001004854

• FaceBase Study of Facial Shape in Tanzania: CIDR

  The goals of this project are to identify loci that underlie major genetic determinants of orofacial shape, by means of a GWAS in a cohort of normal African children (from Tanzania) from whom we have collected 3D digitized facial morphometric scans, and a subsequent replication study of normal children from the same population. These studies are part of the NIDCR FaceBase initiative (https://www.facebase.org/). In addition to dbGaP, all study genotype and phenotype data (including primary facial scans and landmarks) will be available for data-sharing with qualified investigators via the NIDCR FaceBase Hub (www.facebase.org/), following approval by the NIDCR FaceBase Data Access Committee.

  Study phs000622

• Genome-Wide Environment Interaction Study on Neurodevelopment in Children from Mexico and Bangladesh

  Cognitive development is known to be highly heritable, but various genome wide association studies (GWAS) have failed to find common single nucleotide polymorphisms (SNPs) which can explain a large proportion of the variance in cognitive ability. We hypothesized that an interaction between genes and exposure to potentially toxic metals may account for some proportion of this missing heritability. We genotyped 749 infants in Mexico and 636 infants in Bangladesh. Criteria for inclusion into the study are given below. We then performed a Genome Wide Environmental Interaction Study (GWEIS) with neurodevelopment outcomes. There were 552,487 SNPs in common between the two cohorts.

  Study phs000996

• Study for establishment for effective screening and diagnosis of Lynch syndrome

  The purpose of this study is to establish efficient diagnostic procedure of the Lynch syndrome in Japan and to determine the MMR gene mutation spectrum and clinicopathologic characteristics.The person who is suspected Lynch Syndrome and gives informed consent for participation in this study .To carry out the project ?Construction of clinical and genetic integral information database to help Lynch syndrome management?, the following three are required. 1) screening for Lynch syndrome-suspected cases, 2) genetic testing to define Lynch syndrome, 3) integration of detailed clinical data of Lynch syndrome, and 4) The case which has not been diagnosed Lynch syndrome, is investigated causing gene.

  Study JGAS000638

• CLUSTER RNAseq Study of Juvenile Idiopathic Arthritis patients in methotrexate cohort

  CLUSTER aims to discover novel disease mechanisms and biomarkers in children suffering from Juvenile idiopathic arthritis (JIA). Currently, little is known about the pathological disease mechanisms of JIA and there are no validated tools capable of predicting response or non-response to treatment. The study aims to identify biomarkers for treatment response using RNAseq technology. The samples used in this study comes from blood samples that were collected prior to patients receiving methotrexate treatment (naive). These samples were then processed for PBMC isolation followed by sorting cells into 4 different immune cell types. All of these samples were then sequenced by NovaSeq6000.

  Study EGAS50000000995

• 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

• Sensitivity to the Subjective Effects of Amphetamine

  The goal of this study was to identify SNPs associated with subjective, physiological, and behavioral responses to d-amphetamine. The study was double-blind and placebo-controlled. 381 healthy volunteers aged 18-35 years old received oral doses of d-amphetamine (10 and 20 mg) and placebo over the course of three different phenotyping sessions. A subset of subjects received a fourth dose of d-amphetamine (5 mg). Measures of subjective, cardiovascular and behavioral responses were obtained at regular intervals (pre-drug administration and 30, 60, 90, 150, and 180 minutes post-drug administration). The subjective measures included in the study were the Profile of Mood States (POMS), Drug Effects Questionnaire (DEQ) and Addiction Research Center Inventory (ARCI). Tasks included were the Digit Symbol Substitution (DSST) and Stop Task.

  Study phs000832

• The Oral Microbiome and Head and Neck Cancer

  Oral microbiota may influence head and neck squamous cell carcinoma (HNSCC) development, potentially related to carcinogen metabolism. The human oral cavity hosts a diverse microbiota, including bacteria and fungi. We performed shotgun sequencing and ITS1 sequencing on 236 HNSCC case participants who developed HNSCC during a mean follow-up of 5.1 years and 458 matched controls who remained HNSCC-free. Oral samples were obtained from a prospective nested case-control study within three epidemiological cohorts: the American Cancer Society Cancer Prevention Study II Nutrition Cohort (ACS CPS-II), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), and the Southern Community Cohort Study (SCCS). Control participants were selected using 2:1 frequency matching based on cohort, age, sex, race and ethnicity, and time since oral sample collection.

  Study phs004018