Search Results
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… of the National Human Genome Research Institute’s Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … Topics include: How can genomic sequencing replicate or augment known newborn screening results? What knowledge could genomic sequencing provide about conditions not screened for in …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… studies phenotypes and genetic determinants of familial tumor-predisposition disorders. The goal of his work is to … variation that influences phenotype severity (e.g., tumor burden and pigmentary differences). He sees patients … is leading a project which uses new high-throughput sequencing technologies to identify, catalog and characterize …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural research community, … vision for NISC will further expand the institute’s sequencing resources and propel robust, cutting-edge …
Educational Resources
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , initiated …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… medicine, has many predicting that prenatal whole genome sequencing will be widely available in the next five years. … But before prenatal whole genome sequencing is adopted, physicians in obstetrics and … OB/GYNs are for the adoption of prenatal whole genome sequencing and how they view the related ethical issues." …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to … its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease to Participate in Genetic Sequencing Study CLINSEQ® Publications De Castro M, Johnston …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… the project took on a wide range of other goals, from sequencing the genomes of model organisms to developing new … STSs are helpful in chromosome placement of mapping and sequencing data from many different laboratories. STSs serve … Human Genome Project, Complete Human Genome Sequencing, Long-range Planning, Gene Expression, Sequence …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … are screened for genetic diseases. Traditionally, genome sequencing has not been used for this screening. The recent advances in DNA sequencing technologies have triggered a growing interest in …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.