Search Results
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… The Genome: Unlocking Life's Code exhibition is currently … Research studies that generate genome-sequence data rely on a reference sequence for making … were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the …
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. …
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
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 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 …
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 … Collaborative large-scale genome sequencing effort to identify rare risk and protective … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive … microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA fragments. …
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, … complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate …
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 …