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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
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 …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic … Research Network. Previous research established that genomic variants in APOL1 increase the risk of developing … Americans. However, not much is known about how these genomic variants affect people from West African countries, …
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 date. The … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various …
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 …  to guide the evaluation of constitutional copy-number variants (CNVs) in the human genome. This recommendation … A global look at cancer genomes Notable accomplishments in genomic medicine Genomics Videos Eighty-eighth meeting: …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… for the biological father and mother to see what genetic variants they carry. The tests can help parents and … it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a … … Changes in the DNA sequence are called genetic variants. The majority of the time genetic variants have no …
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 … EHRs. The ACMG guidance addresses topics such as: types of genomic information and data entry; data usage and access; …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Many of the studies point to new associations of genetic variants with a number of conditions and disorders, such as … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in … ancestries across the network can be harnessed in large genomic discovery studies. Several studies aimed to show the …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… rather to sequence many human genomes to understand how genomic differences relate to different traits. Some such … in the field of pharmacogenomics  study how specific variants in your genome sequence influence your response to … traffic, you might imagine that if someone has a genomic variant that changes the shape or function of their …