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News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… risk scores in clinical care. To address this concern, the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … of the new reporting framework items include detailing the study population and the basis for choosing that population. …
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.
… in public genomic databases, according to a new study by researchers from the National Institutes of Health … in two public databases, the Genome-Wide Association Study Catalog (GWAS) and the database of Genotypes and … It also limits applicability of the databases to genomic research and to the clinical care of diverse populations. …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… The Genomic Variation Program supports research aimed at: Discovering and typing single nucleotide … Beyond: A Planning Workshop for the National Human Genome Research Institute June 5-6, 2012: Workshop on Establishing … Research Goals … Research Funding …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… molecular, and cell biological levels involve the direct study of human subjects as well as the development and use of … zebrafish and mouse. The Branch fosters outstanding basic research and serves as a model for translational research, emphasizing the compassionate and scientifically …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… A new mouse study offers insights into why some people's hair goes gray … many functions of pigment cells, known as melanocytes. The study showed that when MITF's control of the interferon … Ph.D., study co-author and chief of the Genetic Disease Research Branch at NIH's National Human Genome Research …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human Genome Research Institute (NHGRI) researchers and their … cancers or endometrioid endometrial cancers. The study was published May 9, 2017, in the journal Cancer . …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… of cardiovascular diseases. In addition, they conduct research related to the effects of social determinants on … affected subpopulations. The branch houses the Center for Research on Genomics and Global Health, which advances research into the role of culture, lifestyle, genetics and …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… New study uses postmortem brain tissues to understand genomic … with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), part of the NIH, found that … Read the study … The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer susceptibility and … lung, head and neck, and gastric cancers. They also study the relationship between genetic variation and cancer … response to treatment, and outcomes.  Conducts research on multiple types of cancer, including (but not …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… The Center for Research on Genomics and Global Health (CRGGH) uses genomic … such as African Americans, provide unique opportunities to study how "old" genes interact with "new" environments in the … led by or in collaboration with the Center for Research on Genomics and Global Health. …