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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), which helps administer the … For the last decade, scientists have used genome-wide association studies (GWAS) to study the role that genomic …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… baby might also detect cancer in the mother. … Clinical Studies …
News Release
H3Africa Consortium Array Will Bring Leading-Edge Genomics Tool to Address African Genomic Diversity
Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative.
… This extraordinary effort has been driven by the H3Africa Genome Analysis Working Group, of which Center for Research … … H3Africa Consortium, African genomic diversity, Genome-wide Assocation Studies, GWAS, H3AFrica … Illumina will be developing a GWAS …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… are investigating the disease as a whole and studying the wide range of complications that sickle cell patients … in helping researchers understand how your environment and genome may impact your sickle cell disease? Are you … About Sickle Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acid levels, and for genetic tests and basic research studies. In some patients, a blood test to measure growth … director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association A volunteer non-profit organization whose mission …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… new participants at this time. For other COVID-19 related studies at the National Institutes of Health, visit: … trainees, and guest researchers may join in NIH studies if they wish to do so. You should not feel compelled … Policy for NIH Employees Participating in Medical Research Studies … Who can join? … What is involved? … For NIH …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified …
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.
… The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National … has performed over 6,000 studies  looking at the association of specific genomic variants and cardiovascular … researchers accumulated data from 201 previous genome-wide association studies, including about 1.65 million …