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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 nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… where previously there was a codon specifying an amino acid. … Nonsense Mutation, Missense Mutation, Base Pair, … to a stop codon rather than a codon specifying an amino acid. The presence of the new stop codon results in the … where previously there was a codon specifying an amino acid. … Educational Resources …
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 … budget. … Human Genome Project, Complete Human Genome Sequencing, Long-range Planning, Gene Expression, Sequence …
Educational Resources
A tandem repeat is a sequence of two or more DNA base pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome.
… the chromosome. … Base Pair, Chromosome, Deoxyribonucleic Acid (DNA), DNA Fingerprinting, Non-Coding DNA … A tandem …
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 …
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
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 …