Search Results
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of … biomedical research. The International Human Genome Sequencing Consortium committed to rapid data sharing , … promoted open science. Later, the development of new DNA sequencing technologies and the resulting reductions in the …
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 …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural research community, … vision for NISC will further expand the institute’s sequencing resources and propel robust, cutting-edge …
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 …
Media Availability
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.
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." …