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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… For many years, the National Human Genome Research Institute (NHGRI) has tracked the costs … relative to two metrics: (1) "Cost per Megabase of DNA Sequence" - the cost of determining one megabase (Mb; a … … Genome Sequencing, Human Genome, Human Genome Project, Whole-genome Sequencing, Whole-exome Sequencing, Cost Of …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with … the underlying costs of generating a human genome sequence. Accurately determining the cost for sequencing a … entire genome is being sequenced, the process is called 'whole-genome sequencing.' See Figure 2 for a comparison of …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… Hydractinia  is dissimilar to humans physiologically, its genome contains a surprisingly large number of genes. … and ourselves. “Having this kind of high-quality, whole-genome sequence data in hand allowed us to quickly narrow down the …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake … centers. ​ … Dna Sequencing, Genome Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical …
Data Sharing
The NHGRI Data Sharing Governance Committee is responsible for the activities necessary for the Institute to implement and maintain NIH and NHGRI data sharing policies.
… The NHGRI Data Sharing Governance Committee is responsible for the … for the Institute to implement and maintain NIH and NHGRI data sharing policies. These activities include:  Promoting … Intramural Research  Lisa D. Chadwick, Ph.D. Division of Genome Sciences  Rene Sterling, Ph.D., M.H.A. Division of …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… in genomic medicine, has many predicting that prenatal whole genome sequencing will be widely available in the next five … genetic disorders. ​ … Prenatal genome sequencing, genome sequence fetal blood test, Benjamin Berkman M.P.H., prenatal …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… Research on Genomics and Global Health (CRGGH), have used whole genome sequence data to investigate the origin of the mutation that …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH Clinical Center patients. …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… Broad data sharing promotes maximum public benefit from federally … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data, or other …
About NHGRI
The Genomic Data Science Working Group facilitates engagement of the National Advisory Council for Human Genome Research on genomics and data science issues.
… The NHGRI Genomic Data Science Working Group facilitates a deeper engagement of the National Advisory Council for Human Genome Research on complex issues at the interface between … a subcommittee of the National Advisory Council for Human Genome Research . The working group has been charged with …