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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 …