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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 … the Genome-Wide Association Study Catalog (GWAS) and the database of Genotypes and Phenotypes (dbGaP). Findings were … specify inclusion standards or justification for lack of diversity as a requirement for publication. Implementation of …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… traits), syndrome, continental region of residence and genomic/molecular diagnosis. The need for the tool became … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The region is the most … diverse in the world, yet few studies have looked into genomic risk factors for disease in Africa. … The study …
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.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… to a new genomics study in Nature Genetics . … New Genomic Data The international team of researchers, including … genetic variation data. "Until now, there has been little genomic information from the peoples of North Asia," said … selected Mongolians currently included in the Human Genome Diversity Panel , while some Northern European populations …
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.
… of genome sequences captures significantly more human diversity. … The new pangenome reference is a collection … genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome …
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.
… the pathophysiology of childhood diseases. Traditionally, genomic studies in children have focused on rare Mendelian … underrepresented groups harboring an abundance of genomic diversity and unique clinical presentations. Our approach is … universal sickle cell-based knowledge representation. Database (Oxford). 2019 Jan 1;2019:baz118; PMID: 31769834 L …