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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. The funds, awarded to … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on … , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations and …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… and speakers echoed this theme throughout the workshop. Disease Variant Discovery The morning of day one focused on … surrounding the discovery of variants conferring risk for common disease. He said that one goal for the next five years should …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, … That's remarkable." Insights into the biology of disease Studying Mendelian conditions and characteristics has … taught the researchers a great deal about the biology of disease. "Knowing that there is a relationship between a gene …
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.
… politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a … of human biology and new insights about human health and disease.  On that day 20 years ago, Francis Collins, now the … joins fight against COVID-19 Genes, blood type tied to risk of severe COVID-19 NIH halts clinical trial of …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… genetic results disclosure in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US … Conditions Positive Clinical Impact of Systematic Genomic Assessments in Patients Undergoing a Diagnostic Odyssey DNA …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… and Missions  Working Group Co-Chairs Goals Comprehensive Risk Assessment and Return Gail Jarvik, Iftikhar Kullo, and … how best to validate and implement genome informed risk assessments, which are defined as a combination of genomic , … risk factors to estimate a patient’s risk of developing disease. The Network is investigating whether genome informed …
Policies and Guidance
For FY21, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… on the structure and biology of genomes; the genomics of disease; the implementation and effectiveness of genomic … project, how fast the field is changing, and the level of risk.  NHGRI encourages early stage investigators to become … phenotype data (e.g., clinical information relevant to the disease under study), exposure data, and descriptive …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… outcomes (e.g., acceptability, cost, feasibility, etc.). Risk Assessment/Prediction How a person’s genes can be used to estimate their risk to develop a disease or condition. Pharmacogenomics How a person’s genetic … Use of genomics to identify the etiology of unexplained disease. Gene-Disease Validation Definitive evidence …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… director, Anthony Fauci, M.D. Jeanne is an infectious disease expert, joining NIH from the University of Alabama at … the best,  … Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer Mukamel et al. … results in differences in traits, including the risk for disease. Some genomic variants are small, like changes to …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… genomics to understand biology, to enhance knowledge about disease, and to improve human health — genomics is now … principles of biology to translating that knowledge into disease prevention and medical advances.  This guiding … gene, FMR1 , and showing a link between this SNP and the risk of one disease, fragile X syndrome. I could only dream …