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The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… 2022. PMC9793425  One method for studying the ancestry of a human population involves the use of DNA from …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… of them are very common in the patients of Middle Eastern ancestry. … In making a diagnosis of Familial Mediterranean … a positive family history in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in … establishing a correct diagnosis of FMF is the patient's ancestry. Testing for the following can also be helpful: …
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… workforce demographics, which include race, ethnicity, ancestry; age; gender identity; sexual orientation; … as U.S. citizens (73.3%) and their race, ethnicity or ancestry as white (67%). The top three primary areas of work …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
… cultural and behavioral factors in people of diverse ancestry, according to the perspective. "We hope that …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… traits, particularly serum lipids, in African ancestry populations. She also focuses on the complex … consortium, in order to support the inclusion of African ancestry populations in such efforts. Dr. Bentley is very … A, Rotimi CN. Phenotypic variance explained by local ancestry in admixed African Americans. Front Genet , 2015 …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… information about their genetic information (generally ancestry, some health traits and health risks) from a saliva … the support of a qualified healthcare professional.  For ancestry results, DTC-GT may reveal a genetic relationship to … do not cover all ethnic populations equally; therefore ancestry results for underrepresented minority populations …
DIversity Center
Florida International University establishes a Diversity Center for Genome Research.
… historically been biased toward populations of European ancestry, leading to a lack of representation and … and prognosis in minority populations. We propose Allelic Ancestry Specific PRS (aPRS), which generates accurate allelic ancestry-specific summary statistics, addressing limitations …
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 …
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, …
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 …