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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.
… published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence. … included leadership from researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary … by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ …
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 … that the CCDG program will sequence approximately 100K whole genomes and 125K whole exomes during the life of the program. More information …
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 … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … NIH Clinical Center. Using CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH …
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. … software tool to assemble truly complete (i.e., gapless) genome sequences from a variety of species. This software, … software quickly and precisely assembled the sequences of whole chromosomes, which was once a painstaking feat. As …
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, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more …
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 … best. The most common types of sequencing projects include whole exome sequencing, RNA sequencing, custom capture …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… 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 … currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig …
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.
…  As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding … sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it … repertoire, with a partial list of methods including whole-exome sequencing , whole-genome sequencing , RNA …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th … of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - …  The Genome: Unlocking Life's Code  exhibition is a collaboration …