Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… researchers better understand the meaning of the human genetic instruction book, the project took on a wide range of … 2002; the identification of more than 3 million human genetic variations, called single nucleotide polymorphisms … of known human and mouse genes. … Area Goal Achieved Date Genetic Map 2- to 5-cMresolution map (600 - 1,500 markers) …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… targets  (2015)  TCGA study improves understanding of genetic drivers of thyroid cancer  (2014)  Rare kidney tumor …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in the genome differ among those people. Some of these genetic variants are common, such as the variants for blood … of these variants are not necessarily known, but the genetic code provides a good starting point to predict how … Hacohen Broad Institute of MIT and Harvard Non-coding genetic variants that impact immune phenotypes and diseases …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… (Professor in Cell and Molecular Biology, Center for Genetic Medicine and Surgery) Northwestern University Andy …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… genomics and improve human health. … $1000 Genome Program Genetic Association Information Network (GAIN) Genomics and …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… program August 4, 2022  Roundtable discussion: "Does genetic and genomic screening keep open the door to …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… Diagnosis and Personalized Therapy for Highly Penetrant Genetic Diabetes Principal Investigator : Toni Pollin, Ph.D., … University Co-PI: Paul Dexter, M.D., Indiana University Genetic testing to Understand and Address Renal Disease …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… address this challenge, research that combines patients’ genetic and genomic information with complete longitudinal … contain such longitudinal records, but they typically lack genetic information and store data that is sometimes … time, the Network began to study ways to return additional genetic variants related to disease risk to patients and …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… interpreting the phenotypic consequences (e.g. disease) of genetic variation, particularly in non-coding regions of the … us one more tool to understand the consequences of genetic variation. See a full list of publications claiming …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Fund project, GTEx (2010 - 2019), which investigated how genetic variation impacts gene expression in multiple tissues … (~12.5-18 years). This resource of gene-expression levels, genetic data, and samples will be broadly available for …