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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Research Funding
The Non-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic … of genes? A start to interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… false detection rate of 5 percent. About 96 percent of the genome can be studied with high confidence. More than 80 … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such … and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and …
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… and approval times of researcher DARs. … National Human Genome Research Institute (NHGRI) National Institute for …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… ‘omic analyses have produced valuable insights, recent studies have shown that integrative (or multi-omic) analysis … NCI … NIEHS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Cancer Institute …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… Program has funded research grants from investigators in a wide range of disciplines. Many of these projects have used … research). Add value beyond the genomics and ELSI research studies that are already ongoing at the applicant … issues raised by such research; 2) to conduct scholarly studies that inform the ethical practice of research; and 3) …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… be used by many researchers around the world for future studies. GTEx researchers are studying genes in different … of the Director, in partnership with the National Human Genome Research Institute, National Institute of Mental … for the many researchers who are exploring the human genome. Understanding how the eQTLs change gene behavior in …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… Using Omic Data from Gene Knockout and Human Phenotype Studies U01 HG013177 … The 2020 NHGRI Strategic Vision laid … gene will be known; for non-coding elements in the human genome, such knowledge will be the rule, rather than the exception.” Systematically obtaining genome-wide information about gene functions is critical for …
Research Funding
The EMERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.
… Holm, and Digna Velez-Edwards Develop and maintain network wide protocol Recruitment & barriers Retention strategies … on understanding how best to validate and implement genome informed risk assessments, which are defined as a … or disease risk, and genomic variation. These genome wide association studies (GWAS) conducted with EMR data helped …