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News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… College of Wisconsin in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each … of funds. … The two universities will become the DNA Sequencing Core sites for the UDN. The UDN also includes … sequencing of the protein-coding portion of the genome, or exome. The clinical sequencing results will meet standards …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome … projects directed at improving the use of nanopores in DNA sequencing or creating nanopore arrays to enable large-scale …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… of DNA and then use those smaller sequences to put the whole genome sequence back together like a massive puzzle. A … 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 …
Secondary Genomics Finding Service
The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis.
… Policy for Secondary Findings from Next-Generation Sequencing Research Darnell et al., 2016 Publication … and return of actionable secondary findings in clinical sequencing. Contains the most recent  list  of genes …
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 … any unique clues, like a blue sky. The same is true for sequencing the human genome. Until now, the pieces were too …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual … Research Institute Katrina Goddard, Benjamin Wilfond Exome sequencing in Diverse Populations in Colorado & Oregon … and Women's Hospital Robert C. Green Integration of Whole Genome Sequencing into Clinical Medicine Primary care …
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 … of its Founding Director Eric Green, NISC began DNA sequencing with six  ABI 377  instruments in lab space …
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, … in assembled genome sequences. The massive drop in DNA sequencing costs comes hand-in-hand with increased …