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Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… markers and physical maps to present in-depth analyses of whole genome sequences, population studies have provided the … within the domestic dog. With the availability of large whole genome sequencing libraries, Dr. Parker is now extending her search …
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 … Biesecker LG, et al. Prefernces for result delivery from exome sequencing/genome sequencing. Genet Med , 16(6):442-7. …
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 …
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 … Also in one study, compared with genome sequencing, exome sequencing missed diagnosing some known conditions. …
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) … the care of newborns. … 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 …
Educational Resources
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
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.
Educational Resources
Northern blot is a laboratory technique used to detect a specific RNA sequence in a blood or tissue sample.
News Release
Jeffery Schloss, Ph.D., founding director of the Division of Genome Sciences, is embarking on a new journey: retirement.
… from a successful career that included leading NHGRI's DNA Sequencing Technology Development Program. He also aided in … of nucleic acids-related technologies - in particular, DNA sequencing technology and the well-known $1,000 Genome … refreshed and renewed several large programs, like the sequencing centers, the ENCyclopedia Of DNA Elements (ENCODE) …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.