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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
Event
Future Webinar Series
… about how to identify and interpret the interplay of genetic and non-genetic factors in trait variation. Following on the heels of NHGRI’s workshop “Advances in the Genetic Architecture of Complex Human Traits” is a seminar …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can … most studies of the human genome have focused on European ancestry populations. By not exploring genetic variation within African populations, opportunities …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… of string, your DNA forms many of these loops to create "genetic neighborhoods" within each bunny ear loop. These … and specific gene control switches into close proximity. Genetic neighborhoods can be autonomous and remain separate … study in Nature that describes what happens when two genetic neighborhoods merge in brain tumor cells. Researchers …
Research Funding
Fosters basic and applied research on the ethical, legal and social implications of genetic and genomic research.
… the generation, interpretation, understanding and use of genetic and genomic information and associated technologies. … that arise in connection with the design and conduct of genetic and genomic research. Genomic Healthcare These projects may examine issues that arise as genetic and genomic research are integrated into clinical …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… in the sequence of DNA among individuals are called genetic variation. Genomic variation explains some of the … same chromosome. The program also seeks to relate there genetic variants to functional variation and phenotype. The … Variation Program supports large-scale studies of human genetic variation as part of projects such as the …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating … M.D., Ph.D. The effort is critical to accomplishing the genetic research goals outlined in the National Plan to …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… the lack of openly accessible knowledge bases that capture genetic variants, their phenotypic and functional effects and … in diverse populations as it relates to interpreting genetic test results. Lastly, ClinGen will disseminate the … efforts in the establishment of standards in the use of ancestry and diversity information in clinical genomics and …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… Genome-wide association studies have identified many genetic variants related to disease and have highlighted the … ). The first phase of PAGE examined putative causal genetic variants across approximately 100,000 African … efforts entirely on approximately 50,000 non-European ancestry individuals to better characterize how genetic …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell … study of neural tube defects allows an unbiased search for genetic contribution. PB2092 Ted Han Genome wide CRISPR … associated with canine body size. PB1092 Yixing Han Common Genetic Variants are Associated with Plasma and Skin …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… Ph.D., M.S., C.G.C. … Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program … settings. She has conducted research on the utilization of genetic information by individuals and healthcare systems, … implementation, and utilization of direct-to-consumer genetic testing. Other research included new paradigms for …