Search Results
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… Coordinating Center (CC) involving diverse settings and populations to conduct pragmatic clinical trials of genomic … through pragmatic trials in diverse and underserved populations across Indiana Todd Skaar, Ph.D., Indiana … Implementation Research in the Diverse Settings and Populations of New York City Carol Horowitz, M.D., M.P.H., …
Talking Glossary
Local ancestry refers to segments of an individual’s genome that can be traced back to ancestors from different populations living in different places and at different times.
… genome that can be traced back to ancestors from different populations living in different places and at different … genome that can be traced back to ancestors from different populations living in different places and at different … genome that can be traced back to ancestors from different populations living in different places and at different …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… secreted toxins. We did this by looking across yeast populations and found that yeast do vary in terms of their … Ganguly, Sadhu discusses his research and why yeast have a special place in his heart. He even provides a small … where he talks about his research and why yeast have a special place in his heart. … An interview with Meru Sadhu, …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… a population. Though it primarily affects small, isolated populations, the effects of genetic drift can be strong, …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… diagnoses in children, and is found more often among populations of African- or Hispanic ancestries. Children with … childhood diseases in i nternationally representative populations . In addition, Dr Hanchard cared for patients … genetics of complex childhood diseases in diverse populations, internationally representative populations, …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… not reflect the value of PRS. Careful evaluation of the populations of reference that gave rise to the PRSs used in a … history of the harms that have been incurred by high-risk populations who bear the burden of disease in this country. … individuals, include misrepresenting or misclassifying populations, or de-emphasizing differences across people when …
Event
From 2020-2023, NHGRI director Eric Green, M.D., Ph.D. answered questions on Twitter using the hashtag #AskDrGenome and invited a special guest from NHGRI to join him, as a way to engage with members of the public who want to know more about particular genomics topics.
… he dives into different genomics topics and invites a special guest from NHGRI to join him. Past guests have … on Twitter using the hashtag #AskDrGenome and invited a special guest from NHGRI to join him, as a way to engage with … on Twitter using the hashtag #AskDrGenome and invited a special guest from NHGRI to join him, as a way to engage with …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… captures substantially more diversity from different human populations than what was previously available. The work was … to improve the catalog of genomic variants in diverse populations. Because the human pangenome reference is a work … captures substantially more diversity from different human populations than what was previously available. … Researchers …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… in NHGRI's Medical Genetics Branch . Although from diverse populations, the participants in the study had some common … to the Atlas of Human Malformation Syndromes in Diverse Populations , which they launched last year to help … the study Kruszka P, et al. Noonan syndrome in diverse populations . Am J Med Genet A, 173(9):2323-2334. 2017. … …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… There is an expanding effort to include Indigenous populations like Alaska Native people in genomic analyses to … of unethical research that has caused Alaska Native populations to be wary of sharing their genetic data with … their privacy being breached, especially given their small populations and link to a specific geographic area. Within …