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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 …
Educational Resources
An intron is a portion of a gene that does not code for amino acids.
… Intron, Exon, Amino Acid, DNA Sequence, Gene …
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 …
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 … co-funding from NCI, subsequently crafted the Clinical Sequencing Exploratory Research (CSER) initiative to: 1) …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
… a unit of genetic information encoding a particular amino acid. An anticodon is a trinucleotide sequence located at one … in a messenger RNA (mRNA) sequence. Each time an amino acid is added to a growing polypeptide during protein … on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the polypeptide. …
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 …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… where he combined his interests in early genome sequencing of the Escherichia coli genome with the nascent … expedited gene discovery on this chromosome, and directed sequencing efforts in the early days of the Human Genome Project. In 1997, he co-founded the NIH Intramural Sequencing Center (NISC) as director of the Bioinformatics …
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.
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 … both plants and animals, consist of DNA (deoxyribonucleic acid), the chemical chain that includes the genes that code … list continues to grow almost daily. In addition to the sequencing of the human genome, which was completed in 2003, …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Base Pair, Deoxyribonucleic Acid (DNA), Genotype, Mutation, Phenotype …