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A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… including promoters and other transcriptional regulatory sequences and determinants of chromosome structure and … comparing existing and new methods to identify functional sequences in DNA. On July 23-24, 2002, the NHGRI organized a … ENCODE Regions on the UCSC Genome Browser … ENCODE Target Sequences All ENCODE target regions have accessioned sequence …
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 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).
… The researchers applied the tool to study 460 whole-genome sequences, revealing hundreds of mosaic short tandem repeats. … could underly future research into how mosaicism at these sequences contributes to disease and inform the development …
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.
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
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.
Educational Resources
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.