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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.
… 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.
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 … to be aligned and organized. Such a reference must be high quality and, preferably, enhanced over time as new … its continuing commitment to ensure the availability of a high-quality and maximally useful human genome reference …
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 …