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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 …
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 … then the transition in the mid-2000s from Sanger-based to 'next generation' DNA sequencing platforms. While keeping pace with …
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 …
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, … new insight into genome biology, and I look forward to the next decade of discoveries about these newly revealed …
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 … Powell North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2 Multiple adult and pediatric … Clinical Implementation of Carrier Testing Using Next Generation Sequencing (NGS) Women and their partners seeking …
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.
… of something much larger that was still to come. The next step for the HGP scientists was to refine the working … 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 …
News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… The funds are necessary for making advances in DNA sequencing technology and computational methods possible. As … Human Genome Reference Center. The center will provide a next-generation reference sequence of the human genome as a …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a … currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig … not currently screened for in newborns could genomic sequencing of newborns provide? What additional clinical …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… to analyze large data sets generated by systematic DNA sequencing projects. A highly skilled computational … time of rapid technology change, which has now seen next-generation sequencing throughput increase 20-fold. This …