Search Results
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 the first draft human genome sequence. … 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.
… Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical … through awards just announced by the National Institutes of Health (NIH) Office of Intramural Research (OIR). … surveillance or treatment for a separate condition. The cost of exome sequencing conducted through CCGO will be …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… coordinate small business genomics research. His breadth of experiences combined with working with many inquiries, … handles research topics of technologies for nucleic acid sequencing and synthetic nucleic acids. Dr. Smith earned … Director at the new (at the time) Chromosome 11 Human Genome Center at the Salk Institute for Biological Studies. …
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 … by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The … de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary …
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 …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… The NSIGHT program was developed from the advice of experts who attended the December 13-14, 2010 meeting, … and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… The Genome Technology (GTP) program at NHGRI supports research to … methods, technologies and systems that enable rapid, low-cost determination of nucleic acid sequence and genotyping along with … Resource Sharing To accelerate progress in the field of advanced genomic technology development, grantees will be …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… operating based on last year’s budget — awaiting passage of a new budget for the current fiscal year. The CR allows NHGRI to continue functioning and performing most of its normal work, although we eagerly await a new budget … to appoint Renee Wegryzn, Ph.D., as the inaugural director of the Advanced Research Projects Agency for Health (called …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for enough different … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… Software opens the door for a greater number of complete genome sequences. … National Institutes of Health researchers have developed and released an … software tool to assemble truly complete (i.e., gapless) genome sequences from a variety of species. This software, …