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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 …
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 …
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 … Carolina at Chapel Hill NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening … Overview … …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… HapMap Project. Dr. Mullikin also developed a whole-genome assembly program, called Phusion. Dr. Mullikin … to analyze large data sets generated by systematic DNA sequencing projects. A highly skilled computational … production operations for high-volume processing of whole-exome sequence data sets. Other research in his group …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … that the CCDG program will sequence approximately 100K whole genomes and 125K whole exomes during the life of the program. More information …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate … like putting together a jigsaw puzzle, and different DNA sequencing technologies generate different types of genomic … software quickly and precisely assembled the sequences of whole chromosomes, which was once a painstaking feat. As …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
Educational Resources
A contig is a series of overlapping DNA sequences used to make a map that reconstructs the original DNA sequence of a chromosome or a region of a chromosome.
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human … large amounts of data in a cancer patient's protein-coding exome, the portion of the genome where many key … a patient to a clinical trial. ARTICLE: Van Allen, et al . Whole-exome sequencing and clinical interpretation of …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring … adapt and implement pioneering methodologies, such as whole-genome sequencing, that were made possible by new …