Search Results
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… investigations into chromatin dynamics have uncovered epigenetic regulators of aggressive ovarian cancer, leading … clinically useful applications, driving the development of epigenetic and transcriptomic biomarkers for non-invasive … screening and early intervention. By integrating genomic, epigenetic, and transcriptomic data, this research continues …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… His main interest was in the genetic and environmental factors that influence the development of brain and behavior. … examined the interplay of genomic and environmental factors in shaping the developmental trajectories of brain … 70 percent of the affected phenotype explained by genetic factors. Genomics, therefore, is at the core of understanding …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… and evolving ELSI issues is critical. All of these factors contribute to a need for new and more innovative … risks associated with genomic information, examining factors that influence how people perceive such risks. The … center conducted research on the ethical, legal and social factors that influence the translation of genetic information …
For Teachers
The Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our lives.
… by demonstrating the outcome of an environmentally induced epigenetic change through animation. …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… are interested in exploring how regulatory variants affect epigenetic regulatory networks and disrupt gene expression in … genetic variants on enhancer activity, genome folding, and epigenetic features. In collaboration with the Ahituv lab and … screens. They will also leverage the screens on TFs, epigenetic regulators, and cis-regulatory elements to …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… if you accounted for smoking and known environmental risk factors, there was still increased familial risk, which was … methods that would allow us to include environmental risk factors in our genetic analyses. Since then, we've identified … contributed to these cancers, rather than environmental factors or by chance. The group quickly embraced new …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… 376. Doi: 10.1126/science.abj6987 (2022) Gershman et al. Epigenetic patterns in a complete human genome . Science … al. From telomere to telomere: The transcriptional and epigenetic state of human repeat elements . Science  376. … (2022) Altemose et al. Complete genomic and epigenetic maps of human centromeres . Science 376. Doi: …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… and genomic variants, in addition to studying other factors that influence medication response (such as … a harmful reaction or have no effect at all. Multiple factors influence how a person responds to medications, …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… considering the importance of social and environmental factors that influence human health (and the interactions … human health is affected by both genomic and non-genomic factors — trying to understand what these factors are and how they interact can be fascinating. This …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… many of their genes, frequently coupled with environmental factors. Researchers are studying these changes to understand … that are influenced by multiple genes and environmental factors. Many diseases fall on a spectrum between these two …