Search Results
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 … 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.
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 …
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 …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… biology of living things have changed over time. As DNA sequencing technology becomes more powerful and less … list continues to grow almost daily. In addition to the sequencing of the human genome, which was completed in 2003, … critical data for understanding genetic variation. DNA sequencing centers supported by NHGRI also have sequenced …
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 … will represent 350 genomes from the human population. The sequencing of the human genome was a landmark achievement in … The second component – the Human Reference Genome Sequencing Center - aims to sequence up to 350 additional …