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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
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and … genomic conditions can provide insights into more complex disease processes, where the causes are often a truly … a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in …
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 …
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 …
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 …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… years, scientists have created hundreds of polygenic risk scores (PRSs), which are genetic tests that can be used … that have been shown to be associated with a particular disease. This involves analyzing genomic data from thousands … Since genomics accounts for only part of a person’s disease risk, the PRIMED Consortium is also investigating the …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… the case that variants in many genes contribute to the risk of developing traits and diseases. Scientists and … use tools called polygenic scores to calculate such a risk by combining information about all the genomic variants associated with a disease. Many examples of using polygenic scores have been …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people around the world have sickle cell disease, and this treatment offers great promise for … of using genomic information for screening, diagnosis, and risk assessment in healthcare. …  The Global Biodata …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… these metabolic changes can impact physical traits such as risk of disease or drug toxicity. In this paper (Surendren et al., … which reflect an individual's genetic risk for a trait or disease. ML represents a subcomponent of AI, and beyond its …