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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
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Genomicists and clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from the … also asked him if he would want to know if they found any genomic variants that could affect him or his family. Bryant …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of … Since CF cannot be treated before birth, the purpose of prenatal testing is to prepare parents to care for a baby …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) … initiatives, including the Centers of Excellence in Genomic Science, genome-sequencing centers, and model … COVID-19 vaccine candidates is key, NIH experts say Pop-up testing lab shows volunteer spirit against deadly pandemic …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genomic variation refers to DNA sequence differences among …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various … medicine COVID-19 News and Research Phase 3 clinical testing in the US of AstraZeneca COVID-19 vaccine candidate …
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 … patients and doctors and for patient health overall. As genomic information about patients becomes more and more … …  The All of Us Research Program has started beta testing their new data platform . The All of Us  Researcher …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety … to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel … or preventing disease. … Newborn genetic screening is testing performed on newborn babies to detect a wide variety …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… Predictive testing is for those who have a family member with a genetic … done before any symptoms present themselves. … Diagnostic testing is used to confirm or rule out a suspected genetic … it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …
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: … in Health-Related Research Notice of Special Interest: Genomic Data Repositories (PAR-20-089) and Knowledgebases …