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Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human … tumor sample storage methods produced comparable DNA sequencing information - an important step that may enable … validate the tool, they tested its use in previous exome sequencing studies of 511 cancer patients. In 80 percent …
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.
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 … tests that look for health problems such as diabetes and high cholesterol, as well as for genetic testing. … JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological …
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) … conditions. Since these conditions have disproportionately high morbidity and mortality in non-European populations, … with a Blueprint NIH Scientists Link Genetics to Risk of High Blood Pressure Among Blacks Notable Accomplishments 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.
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.