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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
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
… societal issues that need to be studied and addressed as genomic science and medicine move forward. The division helps … to ensure that the research findings are incorporated into genomic research initiatives and other NIH and NHGRI …
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.
… The Big Picture Genomic data science is a field of study that enables … our ability to decipher the information it contains, so genomic data science will be a vibrant field of research for … must be educated about the implications of their studies and work closely with ethics researchers. … How do …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Severity of SCD Symptoms … Related Content … New NIH studies seek adults and families affected by sickle cell …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … allows researchers to use the initial dataset and tools in studies. During this beta-testing phase, researchers are … paper and pencil and no computers NIH study shows genomic variation causing common autoinflammatory disease may …
News Release
H3Africa Consortium Array Will Bring Leading-Edge Genomics Tool to Address African Genomic Diversity
Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative.
… Amy Bentley … In a major advance for those engaged in genomic research in African ancestry populations, Illumina … tools that were not designed to sufficiently capture the genomic diversity of these individuals. This extraordinary … African genomic diversity, Genome-wide Assocation Studies, GWAS, H3AFrica … Illumina will be developing a GWAS …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, especially, disclosing … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and … best interests of the child, pediatricians must recommend genomic sequencing when necessary for diagnosis whether or …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… associated with engaging the public about genomics and genomic medicine. Her efforts will also include working with … A global look at cancer genomes Notable accomplishments in genomic medicine Genomics Videos Eighty-eighth meeting: … for clinical interpretation of genomic copy-number variation … Genome: Unlocking Life’s Code website unveils new …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… capabilities within their Institutes to effectively use genomic data in clinical research and clinical care. The NIH … with a vision that this will evolve toward comprehensive genomic evaluations in the future. To initiate this program, … primary and secondary. Both cross-sectional and family studies will be considered. Study design for family studies …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… HapMap Project … A haplotype is a physical grouping of genomic variants (or polymorphisms) that tend to be inherited …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… with newly generated genome sequences. This reveals genomic changes that have occurred in different populations … the extracted DNA [see DNA Sequencing ]. Genomic studies like these have allowed us to examine human genomes … people are different from each other [see Human Genomic Variation ], among a collection of Europeans. The patterns of …