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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
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 … (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical applications … the latter number represents the total U.S. funding for a wide range of scientific activities under the HGP's umbrella …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… come from differences in our DNA sequences.  The human genome is more than 3 billion letters long, which means that … represented in genomics research. The National Human Genome Research Institute (NHGRI) is working to enhance the … reflect the full spectrum of human populations in genomic studies, researchers can identify genomic variants associated …
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 … for establishing the DNA sequencing capacity of the NHGRI Genome Sequencing Program. Here, NHGRI provides an analysis … sequence of a specified quality [see below]; (2) "Cost per Genome" - the cost of sequencing a human-sized genome. For …
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… different RNA molecules from the same gene in the genome. When mRNAs are alternatively spliced, mRNAs from the … RNA of retrotransposons to stop them from moving.   Some studies have shown that retrotransposons have played … Tests that look at RNA might help doctors detect a wide range of diseases, from tuberculosis to some cancers , …
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… la Red de Información de Asociación Genética ( Genetic Association Information Network , GAIN), para financiar … de asociación de genes "candidatos" ( Candidate Gene Association Resource ), que agrupa muestras de ADN obtenidas …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… perceived by different communities. … The National Human Genome Research Institute (NHGRI) wants to ensure that all … backgrounds who have the training to pursue careers in genome sciences, genomic medicine, and genomics and society … research to include basic, clinical, and social sciences studies that focus on identifying, understanding, preventing, …
Fact Sheet
Informed consent is more than a form; it’s a process. What does it involve?
… concepts can be challenging to convey. With advances in genome sequencing technology, increased data sharing and … to be informed if their biospecimens will undergo whole-genome sequencing.  Genomics research often requires large …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… medicine).   … What is pharmacogenomic testing? Studies indicate that more than 98% of people may have a … how a person responds to medications, including their genome, environment, lifestyle, and medical history, as well …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… is PCR? … Companion Fact Sheets … Beginning with the Human Genome Project 30 years ago, NHGRI has supported research …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… including investigator-initiated research projects. Studies that do not result in a publication are also expected … and ontologies that facilitate comparison across similar studies within their research community. … If you have … Institutes and Centers for use in research.  The Human Genome Variation Society (HGVS)’s Sequence Variant …