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News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… in genomic 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 …
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. …
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. …
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.
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.
… were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the … Information. These efforts have included additional DNA sequencing by new and different methods to close gaps and … and basic research scientists. A Human Reference Genome Sequencing Center at the University of California, Santa Cruz …
Educational Resources
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism.
Educational Resources
A bacterial artificial chromosome (BAC) is an engineered DNA molecule used to clone DNA sequences in bacterial cells (for example, E. coli).
… E. coli). … Cloning, Bacteria, Bioengineering, DNA Sequencing, Base Pair, Chromosomes … A bacterial artificial … E. coli). BACs are often used in connection with DNA sequencing. Segments of an organism's DNA, ranging from … the BAC DNA, which can then be isolated and used in sequencing DNA. … A bacterial artificial chromosome (BAC) is …