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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genetic Architecture of Complex Traits1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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. … How can we elevate the voices of those who have been underrepresented and minoritized in science and healthcare? …
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, …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… NHGRI. … Alaska Native people have been historically underrepresented in biomedical studies , especially in … There is an expanding effort to include Indigenous populations like Alaska Native people in genomic analyses to … and research initiatives to ensure systemic inclusion of underrepresented individuals in genomic research. Most …
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. … …
Research Training
This program provides doctoral and medical graduates the opportunity to use genomic approaches to advance the growing area of health disparities research
… or behavioral research related to health disparate populations and the medically underserved, but also strives … from individuals who come from groups traditionally underrepresented in science and engineering careers. Underrepresented groups in biomedical research include, but …
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 …
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 … on the genetics of complex childhood diseases in diverse populations. In addition, Dr Hanchard cared for patients with … with populations of African ancestry being particularly underrepresented, despite harboring an abundance of genomic …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… the voice of the patients, families, communities, and populations with genomic conditions and/or in need of … at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or … at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… which includes providing one-on-one care, treating entire populations, teaching the next generation of nurses, or … services and assess for understanding. Identify at-risk populations. Form empathetic relationships to support … at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or … at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or …