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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… a study that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this … will be useful for accurately reading the genomes of individual humans and other animals, plants and insects. … …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… television's Dr. Gregory House is the embodiment of how medicine is currently practiced. After visiting with … Leslie Biesecker, M.D., chief of the National Human Genome Research Institute's (NHGRI) Medical Genomics and … code is a powerful solution to confront the challenges of cost and time in today's practice. It can reduce the need to …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… Bruce Agnew … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or "secondary" findings that can reveal …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced … human genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … surveillance or treatment for a separate condition. The cost of exome sequencing conducted through CCGO will be …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, … may have important implications for the DNA sequencing of clinical samples, and perhaps affect the diagnostic …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… before applying? Responsibilities as a PI, consent, type of data accepted, and how to apply … What happens after my … by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will …
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 … facility that emphasizes the generation and analysis of DNA sequence. In addition to providing investigators at … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across …
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.
… and analyze the resulting data. The National Institutes of Health (NIH) will lose a key member of its broader … Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of NIH. "When I … organization that provided DNA sequencing services on a cost-recovery basis, needed someone with industry experience. …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics. … Anna … What accomplishments in your career are you most proud of? Jim Mullikin: Of course, the Human Genome Project is one …