A5035759870- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Childhood Cancer Survivors' Quality of Life
- Health, Environment, Cognitive Aging
- Autism Spectrum Disorder Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Birth, Development, and Health
- Folate and B Vitamins Research
- Ubiquitin and proteasome pathways
- Neuroendocrine regulation and behavior
- BRCA gene mutations in cancer
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Lysosomal Storage Disorders Research
- DNA Repair Mechanisms
- Endoplasmic Reticulum Stress and Disease
- Cellular transport and secretion
- Air Quality and Health Impacts
- Genetic factors in colorectal cancer
- Animal Genetics and Reproduction
National Human Genome Research Institute
2021-2024
National Institute on Drug Abuse
2019
National Institute of Environmental Health Sciences
2007-2018
National Institutes of Health
2014-2018
Research Triangle Park Foundation
2018
National Cancer Institute
2015
University of Nottingham
2011
Duke University
2005-2006
Case Western Reserve University
2000-2006
Harvard University
2001
The reference human genome sequence set the stage for studies of genetic variation and its association with disease, but epigenomic lack a similar reference. To address this need, NIH Roadmap Epigenomics Consortium generated largest collection so far epigenomes primary cells tissues. Here we describe integrative analysis 111 as part programme, profiled histone modification patterns, DNA accessibility, methylation RNA expression. We establish global maps regulatory elements, define modules...
The NIH Roadmap Reference Epigenome Mapping Consortium is developing a community resource of genome-wide epigenetic maps in broad range human primary cells and tissues. There are large amounts data already available, number different options for viewing analyzing the data. This report will describe key features websites where users find data, protocols analysis tools developed by consortium, provide perspective on how this unique facilitate inform disease research, both immediately future.
Abstract The Developmental Origins of Health and Disease (DOHaD) paradigm is one the most rapidly expanding areas biomedical research. Environmental stressors that can impact on DOHaD encompass a variety environmental occupational hazards as well deficiency oversupply nutrients energy. They disrupt early developmental processes lead to increased susceptibility disease/dysfunctions later in life. Presentations at fourth Conference Prenatal Programming Toxicity Boston, October 2014, provided...
Family and twin studies have indicated that genes influence susceptibility to panic phobic anxiety disorders, but the location of involved remains unknown. Animal models can simplify gene-mapping efforts by overcoming problems complicate human pedigree including genetic heterogeneity high phenocopy rates. Homology between rodent genomes be exploited map underlying complex traits. We used regions identified quantitative trait locus (QTL)-mapping phenotypes in mice guide a linkage analysis...
Background: The epigenome may be an important interface between environmental chemical exposures and human health. However, the links epigenetic modifications health outcomes are often correlative do not distinguish cause effect or common-cause relationships. Adverse Outcome Pathway (AOP) framework has potential to demonstrate, by way of inference- science-based analysis, causal relationship exposures, epigenome, adverse outcomes. Objective: objective this work is discuss as a modifier...
In early mammalian development, one of the two X chromosomes is silenced in each female cell as a result chromosome inactivation, dosage compensation mechanism. mouse epiblast, choice which inactivated essentially random, but can be biased by alleles at X-linked controlling element (Xce). Although this locus was first described nearly four decades ago, identity and precise genomic localization Xce remains elusive. Within inactivation center region chromosome, previous linkage disequilibrium...
Epigenetic dysregulation in disease is increasingly studied as a potential mediator of pathophysiology. The epigenetic events are believed to occur somatic cells, but the limited changes DNA methylation studies date indicate that only subsets cells tested undergo dysregulation. recognition this subpopulation effect indicates need for care design and execution epigenome-wide association (EWASs), paying particular attention confounding sources variability. To maximize sensitivity EWASs,...
Abstract Mendelian disease genomic research has undergone a massive transformation over the last decade. With increasing availability of exome and genome sequencing, role expanded beyond data collection, analysis to worldwide sharing collaboration. Over 10 years, NIH-supported Centers for Genomics (CMGs) have played major in this clinical evolution. We highlight cumulative gene discoveries facilitated by program, biomedical leveraged approach, larger impact on community. extends generating...