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NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
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.
… opens the door for a greater number of complete genome sequences. … National Institutes of Health researchers have … tool to assemble truly complete (i.e., gapless) genome sequences from a variety of species. This software, called … Finnish, makes the process of assembling complete genome sequences more affordable and accessible. A description of …
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.
… Contig … A contig is a series of overlapping DNA sequences used to make a map that reconstructs the original … of a chromosome or a region of a chromosome. … DNA Sequences, DNA Mapping, Chromosomes … A contig (as related to … from the word “contiguous”) is a set of DNA segments or sequences that overlap in a way that provides a contiguous …
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.
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… of Sub-Saharan Africa have 1% to 3% Neanderthal-derived sequences in their genomes, and now we can point to where those sequences are in some of our genomes. … Rogers: What was it … point where we can generate telomere-to-telomere genome sequences for everybody. This would be a big change for the …
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.
… by helping them interpret both research and patient genome sequences,” said Adam Felsenfeld, Ph.D., NHGRI program … use the reference genome sequence to assemble genome sequences from individuals. By advancing the quality of the … state-of-the-art technologies to incorporate high-quality sequences that are more broadly representative. The amount of …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… use a variety of tools to compare the complete genome sequences of different species. By carefully comparing … regions of similarity and difference. … Identifying DNA sequences that have been "conserved" - that is, preserved in … genes that code for different proteins and the regulatory sequences that turn those genes on and off. Precisely which …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… W., Green E.D. Comparative analyses of multi-species sequences from targeted genomic regions. Nature, … Context-dependent Mutation Rates Using Primate Genomic Sequences. J Mol Evol , 65(3):207-14. 2007. [ PubMed ] Grice … ED. Effort required to finish shotgun-generated genome sequences differs significantly among vertebrates. BMC …