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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.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code exhibition is currently … the field of genomics. … 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 … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … 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 … patients. Exome sequencing explores the 1-2 percent of the genome that codes for proteins, the most likely place to find …
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 …
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, … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings …
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 … microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA fragments. … Dr. … in pregnant women whose DNA sequencing results demonstrate genome-wide imbalance, which suggests that there may be a …
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 … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
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 - … exhibition celebrates the 10th anniversary of the initial sequencing of the human genome. … Human Genome Sequencing, …
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 … Title Robert Green Alan Beggs Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and …
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.
… setting. … As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding megabases of genome sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it …