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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, Ph.D., the director of the Division of Genome Sciences - the NHGRI division that leads research aiming to understand the function of the human genome in health and disease, and seeks …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… the same. … Did you know that at the base-pair level your genome is 99.9 percent the same as all of the humans around … and what your risk might be for various diseases. But your genome doesn't entirely define you. Well before the … from each parent) are not working, so there is a " loss-of-function ." Surprisingly, in some people, one of those 20 …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … performed nearly 6,000 experiments – 4,834 for the human genome and 1,158 for the mouse genome – ENCODE was able to … insights into the DNA modifications that influence genome function, the proteins that bind to DNA, and how RNA …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… result in some changes to how NIH staff members function, as (like for many aspects in society) we begin … the status of the evolutionary synthesis after the Human Genome Project; and recent work in human genomic variation. … … X syndrome Lander, Collins set forth a vision for ARPA-H Genome: Unlocking Life's Code June 2021 newsletter … …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 11:05 - 11:25 a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …  Predicting and Characterizing Functional Consequences of Genome Variation, Including Beyond Single Variant/Gene Panel: …
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working … of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the … An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet . June 2017. [ PubMed ]  …
Research Funding
The Division of Genome Sciences supports and accelerates foundational resources, technology development, experimental approaches, in basic genomics and functional genomics research. The Division also oversees a number of transformational initiatives and programs in genomic sciences.
… please visit NHGRI's Research Funding . … The Division of Genome Sciences supports and accelerates foundational … data science and analytical tools that transform genome science to facilitate research on the function of the genome in human health and disease. In …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… ethical responsibilities, as information about a person's genome sequence is associated with complex issues related to … about how they will use and share the resulting genome-sequence data in the process of gaining such informed … increasingly help researchers process vast quantities of genome-sequence data to look for hidden patterns in DNA. …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… the functions of all the chemical tags that mark the genome. … The epigenome is a multitude of chemical compounds that can tell the genome what to do. The human genome is the complete assembly … epigenomic compounds attach to DNA and modify its function, they are said to have "marked" the genome. These …