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Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… principle ways. Primarily, they will leverage genome-wide sequencing technology and other complementary genomic … Mendelian disorders. … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… C is changed to a T. Researchers used the base editing method, which substitutes a single DNA letter for another … some life extension, but it is not a cure. The DNA-editing method may provide an additional and even more dramatic … his lab at the Broad Institute developed the base-editing method in 2016, funded in part by NHGRI. "CRISPR editing, …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… and the field of genomics. … The NIH Intramural Sequencing Center (NISC) sits on the top floor of a research … houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start in 1997 under … sequencing and then the transition in the mid-2000s from Sanger-based to 'next generation' DNA sequencing platforms. …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing Informatics Tools … GS-IT provides sequence …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … clues, like a blue sky,” he said. “The same is true for sequencing the human genome. Until now, the pieces were too … preparing and analyzing small pieces of DNA, they used a method that leaves DNA molecules largely intact. These large …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and … Seeing the whole progress, from the very early days of Sanger sequencing all the way to a complete … acting director in 2009, we were transitioning from Sanger sequencing to the massively parallel modern DNA …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” technologies, … longer sequence reads. The Oxford Nanopore DNA sequencing method can read up to 1 million DNA letters in a single read …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… had also accomplished a series of other goals, including sequencing the genomes of a set of model organisms. In fact, … for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01) Limited …