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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… the chromosomes was detected, and that they should see a genetic counselor immediately. The couple found it hard to … meant for their future baby. But when they met with the genetic counselor, she said the genetic abnormality wasn’t likely to be from the fetus but …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… advances made by African American people in biomedical and genetic science. The first session will be held on May 18, … Communications will convene an expert panel entitled "Does genetic and genomic screening keep open the door to … eugenics and scientific racism in the context of genetic and genomic screening technologies. Emerging …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
The Genomics Landscape
In the December 8, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., looks back on the success of the Genome: Unlocking Life's Code exhibition as it came to a close in November.
… its generation of the first human genome sequence — the genetic blueprint of the human body. The exhibition was … examined the complexities of the genome — the complete genetic or hereditary material of a living organism — and … – covering “what’s in your genome,” “what’s your genetic risk,” “what’s in your microbiome,” and “what …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… to significantly increase the proportion of human genetic diseases with an identified genetic cause, as part of the Genomics Research to Elucidate …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… of human genomic variation and for understanding the genetic contributions to certain diseases. The work was done … nuances of the human genome, which in turn will empower genetic studies of human disease.” The now-complete human … DNA differs. Such insights are vital for understanding the genetic contributions to certain diseases and for using …
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.
… the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …
The Genomics Landscape
In the September 1, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., focuses on the NHGRI History of Genomics Program's preservation of historical assets related to the field of genomics as it celebrates its 10th anniversary.
… an expert panel for a virtual meeting entitled " Does genetic and genomic screening keep open the door to eugenics? … eugenics and scientific racism in the context of genetic and genomic screening technologies. Next month, it … (GenomeEd) . The new site incorporates filters to help genetic counselors, nurses, pharmacists, physician …
News Release
The NHGRI Short Course in Genomics brings the latest genomics science to the classroom.
… revise our understanding of human biology. This volume of genetic information can have direct implications for the …