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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 … most likely to be usefully addressed by a genomic sequencing approach still accumulating. Incorporation of … materials, and function as a sounding board to new groups. Tumor Chair: Will Parsons and Dan Robinson Misson: Explore …
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 …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Leja, NHGRI. Dr. Bell and her team isolated DNA from tumor cells and from normal cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from normal cells. The team … blocks (nucleotides) in the protein-coding regions of the tumor and normal DNA from 16 CCEC patients, and found …
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 … researchers tested Verkko with human and non-human genome sequencing data. The software quickly and precisely assembled …
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.
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 … that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet …
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 … the whole progress, from the very early days of Sanger sequencing all the way to a complete telomere-to-telomere … NISC has evolved in tandem with rapidly advancing DNA sequencing technologies. When I was appointed acting director …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… is slow. Surgery may be another treatment used if the tumor has not spread to other parts of the body and the man … surgery may be done to remove as much of the prostate, the tumor and tissue around the prostate to check if the cancer … of surgery. This treatment is aimed directly at the tumor to kill the cancer cells. It is also used in later …
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 … analysis package called "Image", custom-modified 60 ABI377 sequencing machines to scan 96 lanes, developed a blazingly … driven sample loading, automated data transfer off the sequencing machines to the central computer cluster, and …