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Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… many of their genes, frequently coupled with environmental factors. Researchers are studying these changes to understand … that are influenced by multiple genes and environmental factors. Many diseases fall on a spectrum between these two …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… genetic features with implications for fertility, such as factors in sperm production. Learn more about this … human #YChromosome sequence! This sequence reveals genetic factors with implications for fertility. …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… 376. Doi: 10.1126/science.abj6987 (2022) Gershman et al. Epigenetic patterns in a complete human genome . Science … al. From telomere to telomere: The transcriptional and epigenetic state of human repeat elements . Science  376. … (2022) Altemose et al. Complete genomic and epigenetic maps of human centromeres . Science 376. Doi: …
Outreach
A list of high quality educational activities to engage students on DNA Day.
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… (US). Complex relationships between genetics and social factors influence health outcomes. Approximately 33% of … and therefore provide an opportunity to identify factors contributing to health disparities. However, the AoU … Probe design, image analysis, modeling, and integration of epigenetic data  Training, resources, and opportunities for …
The Genomics Landscape
In the July 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes the inaugural class of the ASHG-NHGRI Genomics and Public Service Fellowship Program.
… noise. They also found that the binding of transcription factors, proteins critically involved in the production of … genes linked to brain cell loss in ALS Inherited genetic factors may predict the pattern of X chromosome loss in older …
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.
… 376. Doi: 10.1126/science.abj6987 (2022) Gershman et al. Epigenetic patterns in a complete human genome . Science … al. From telomere to telomere: The transcriptional and epigenetic state of human repeat elements . Science  376. … (2022) Altemose et al. Complete genomic and epigenetic maps of human centromeres . Science 376. Doi: …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… testing, individual patient medical information, and risk factors. Author: Karen Niemchick, Ph.D. External Reviewers: … of testing, and the regulatory landscape. Important factors are included to guide clinicians through selecting a …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… the world, yet few studies have looked into genomic risk factors for disease in Africa. … The study provides clues to …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. … NHGRI …