Search Results
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.
… efforts in the establishment of standards in the use of ancestry and diversity information in clinical genomics and … could be prevented or mitigated if the risk were known Ancestry and Diversity Alice Popejoy Carlos Bustamante Investigate how ancestry information is used in clinical genomics and provide …
File
… Evaluating the promise of inclusion of African ancestry populations in genomics (January 2020) …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the …
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.
… studies to date have examined individuals of European ancestry. Because of this issue, there may not be adequate … beyond polygenic risk scores. The percentage  of ancestry populations included in large-scale genomic studies … risk scores may only be valid and useful for European ancestry populations. More research is needed to derive the …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of thalassemia are called … individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets … risk scores were also applicable to people of African ancestry, which was confirmed through analyzing data from …
Diversity Center
Tuskegee University establishes the Carver Genomic Research Center.
… The purpose of this study is to determine whether genetic ancestry play a role in gene expression, genomic landscapes … We aim to explore the association of African genetic ancestry in admixed-African breast cancer patients. We …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… social inequities. How concepts of race, ethnicity and ancestry have been (and are currently) used in genomic … genomics on the conceptualization of race, ethnicity and ancestry across diverse individuals and groups. How genomic … direct-to-consumer (DTC) companies that offer genetic ancestry testing and other genomic services, law enforcement, …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… sampled over 300 dogs to characterize their genetic ancestry and found large, complex families of dogs living in …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… AP, Chen G, et al. Variation in APOL1 Contributes to Ancestry Level Differences in HDLc-Kidney Function … associated with boday mass index in individuals of African ancestry. Nat Genet: 2013 Jun.; 45(6):690-696: PMID:23583978 … wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet: …