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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 …
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 …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the relationship between GCase and PD, to identify factors contributing to clinical heterogeneity in single gene … of genotype with phenotype, and the contribution of factors modifying this disorder. Focusing on GD, the group is …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… genetic variants on enhancer activity, genome folding, and epigenetic features. In collaboration with the Ahituv lab and … screens. They will also leverage the screens on TFs, epigenetic regulators, and cis-regulatory elements to …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… humans. The researchers identified multiple transcription factors — proteins that regulate the expression of genes — … a window to understanding the human condition, including factors influencing human history, health, disease …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
… include whole genome sequencing , whole exome sequencing, epigenetic profiles, microbiotic profiles, and related forms …