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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… Steven Benowitz … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made … genomics in medicine. CSER investigators have discovered genomic variants - differences in the DNA code - that could …
News Release
Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources.
… health professionals looking to integrate genomics into patient care now have access to an online toolkit with more … The Method for Introducing a New Competency in Genomics (MINC) website provides resources for nursing … can help practicing nurses care for patients undergoing genomic testing and treatments, build awareness in their …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Study shows genomic information can unknowingly influence medical … Persky: Researchers are increasingly using genomic data in the clinic for diagnosing rare health conditions. But for … this information will influence how a doctor might view a patient and make medical recommendations.  We know from …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… Advances in the field of genomics over the past quarter-century have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different … sequence to a reference human genome, sequence assembly, genomic variant calling, or annotation. Almost certainly, …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA … patients. They have developed an algorithm that sorts out genomic mutations and variations and ranks them according to … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Advances in genomics are reducing the cost of genome sequencing by a … DNA, including a million-fold reduction in the cost for sequencing a human genome. Continually improving the accuracy …
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … See the Frequently Asked … webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , RFA-HG-24-022 , and RFA-HG-24-023 …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing Program components. … The GSPCC has both …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … individually. A computer program looks for overlaps in the DNA sequences, using them to reassemble the fragments …