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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.
… and provides us with the most useful information for our study. Most hospitals do not have the same MRI capabilities. … or non-reportable NIPT result, you can still join the study. You will not have to travel to the NIH to participate. … place in or near your hometown to follow up on your study results. In most cases, the next step is to have a …
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 … through Illumina and Quartz Africa . … Accelerating Study of African Genomes … Related Content … H3Africa … … H3Africa Consortium, African genomic diversity, Genome-wide Assocation Studies, GWAS, H3AFrica … Illumina will be …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in … 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 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders … organ transplantation, are used for treatment. This study will evaluate patients with MMA and cobalamin disorders … 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.
… A RUNX1 Longitudinal Natural History Study was launched by a team of NHGRI investigators at the … .  To learn more or enroll in the Natural History Study, email natalie.deuitch@nih.gov . … The purpose of this … 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.
… The CLINSEQ® Study seeks to learn about the role that your genes play in … 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.
… We appreciate your interest in the COVIDcode study. We are not accepting new participants at this time. … contáctenos a (240) 274-6777 o covidcode@nih.gov . This study aims to learn more about the genetic contributions to … test positive for our main analyses.  … If you join this study, we will: Ask you to donate a blood or saliva sample …
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 …