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News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute and their international … collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better recognize and …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with … and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. … Previously, the only available diagnostic atlas featured photos of patients with northern European …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their … the study. The researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by … Genomic Databases They found significantly fewer studies of African, Latin American and Asian ancestral populations …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Grantees  Institution (Contact PI) PIs Title University of Maryland, Baltimore Sally Adebamowo*, Michele Ramsay, … Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of Southern … California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… A gene pool refers to the combination of all the genes (including alleles) present in a reproducing population or species. A large gene pool has … Inbreeding contributes to a smaller gene pool, making populations or species less able to adapt and survive when …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… The National Human Genome Research Institute (NHGRI) wants to ensure that all populations are knowledgeable about the science underpinning … genomics research, and have the opportunity to participate in various ways, such as becoming research scientists, … Genome Project, perhaps the greatest scientific endeavor of the 21st century, has changed the way medicine is …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Study finds that sickle cell trait is prevalent among diverse human populations. … National Institutes of Health (NIH) researchers and collaborators have found that … risk of blood clots, a risk that is the same among diverse human populations that may not traditionally be associated …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which … The atlas is the culmination of work from the Genotype-Tissue Expression (GTEx) …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… The National Institutes of Health (NIH) will fund grants totaling $38 million over … that polygenic risk scores can be used to predict disease in diverse communities. Polygenic risk scores, often referred … people with and without a particular disease. The National Human Genome Research Institute (NHGRI), part of NIH, will …