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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.
… syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding highly accurate images … will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions … National Health System, and published their results in the May 2018 issue of the American Journal of Medical …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new … does not represent the characteristics of these diseases in patients from other parts of the world. The free … and deputy director of the NIH Center for Research on Genomics and Global Health. "This project was born out of a …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The region is the most genetically diverse in the world, yet few studies have looked into genomic risk … approach is not always best when it comes to population genomics." The research team identified novel evidence of how …
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.
… but diverse populations are still underrepresented in public genomic databases, according to a new study by … Bonham is also the Senior Advisor to the NHGRI Director on Genomics and Health Disparities. "Because genomic information … specify inclusion standards or justification for lack of diversity as a requirement for publication. Implementation of …
Talking Glossary
La hibridación in situ es una técnica de laboratorio empleada para localizar una secuencia de ADN o ARN en una muestra biológica.
… Hibridación in situ … La hibridación in situ es una técnica de laboratorio empleada para localizar … una secuencia de ADN o ARN en una muestra biológica. … In situ hybridization is a laboratory technique used to …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… of genomic variants associated with blood lipid levels. … In a large-scale study of people from diverse ancestries, … risk for such diseases.” Since the field’s inception, the genomics community has performed over 6,000 studies looking … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo.
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …
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.
… Southern California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve … (PRIMED) Consortium … Polygenic Risk Score (PRS) Diversity Consortium will work together to develop and …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Gene Pool … A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene … combination of all the genes (including alleles) present in a reproducing population or species. A large gene pool has …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their findings in the September 2017 issue of the American Journal of … Syndrome is relatively common -- affecting between 1 in 1,000 to 1 in 2,500 children -- few studies have been …