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News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, Maryland. … sequence reads for 76 researchers using the Sanger dideoxy sequencing method. That figure has spiked in the last six …
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 … 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 …
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
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 …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… Genome Sequencing Informatics Tools (GS-IT) provides "researcher … Genome Sequencing Informatics Tools … Genome Sequencing Informatics Tools …
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”
… Long-Read DNA Sequencing … While some sequencing technologies produce reads that are only a few … of thousands of nucleotides long, known as “long-read DNA sequencing.” … DNA sequencing technologies determine the order of the base pairs … to assemble the sequences of full chromosomes. While some sequencing technologies produce reads that are only a few 100 …
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 …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening. … including a magnetic resonance imaging (MRI) scan of the whole body. The researchers also surveyed the participants to … everyone’s expectation.” The researchers found that whole-body MRI could detect these silent cancers 98% of the …
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 …