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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across NIH, aims … methods to analyze genomics data with applicability to clinical and basic science questions that were thought to be …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable panels. …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … NOT-OD-24-134 : Extramural Loan Repayment Program for Clinical Researchers (LRP-CR) NOT-OD-24-135 : Extramural Loan … to Human Health (LRP-REACH) NOT-OD-24-138 : Extramural Clinical Research Loan Repayment Program for Individuals from …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… above, or patients who are older than 1 month and who have evidence of autoinflammatory disease (such as persistently … on new genetic discoveries. We can search our database of clinical and genetic data to see if we have a match. We may … Ivona Aksentijevich if you would like to further discuss research opportunities. … FAQ for Providers and Researchers … …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… fertility, including sperm production. … An international research team has generated the first truly complete sequence … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… is surely not alone in his astonishment. The field of DNA sequencing is full of ideas that are just crazy enough to … Division of Genome Sciences at the National Human Genome Research Institute (NHGRI). "If we can't see what's there … $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … blocks - called "bases" - that make up the DNA molecule. … Sequencing DNA means determining the order of the four … were developed with support from the National Human Genome Research Institute (NHGRI) Genome Technology Program and its …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… Jeannine Mjoseth … Genomics research is a quintessential team science. Contributing to … 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center … has attained an extraordinary 90 percent success rate in generating sequence data from DNA samples accepted for study. …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center (PSC) … of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to … Research Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… in 1990 with the anticipation that once we started generating massive amounts of human genomic data, there'd be … factors to consider. Now, researchers and clinicians are sequencing human genomes faster than ever, so considering the … question where there has been a lot of debate within the clinical genomics, pediatric and bioethics communities. …