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About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human … reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that … as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… A dozen awards from the National Institutes of Health will support research that incorporates DNA … information into electronic medical records. The goal of research conducted by the Electronic Medical Records and … (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients …
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.
… 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. … studies; derived from the word “contiguous”) is a set of DNA segments or sequences that overlap in a way that …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… Did you know that just knowing the genome sequence of an organism only reveals part of the story - and that it is also important to determine how … Although it's appealing to think of the genome sequence as the "book of life" for an organism - one …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Dr. James Thomas is the director of the NIH Intramural Sequencing Center. He oversees the importation and use of DNA sequencing technologies, protocols and analyses, … coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
… is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence. … A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genetic information encoding a particular amino acid. An …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer … Genome Research Institute (NHGRI), which are both part of the National Institutes of Health, U.S. Department of … NIH completes in-depth genomic analysis of 33 cancer types (2018) The Cancer Genome Atlas …
Funding Opportunities
Guidance that covers: (1) Letters of Intent; (2) NHGRI’s Genomic Data Sharing Expectations (3) Applications requesting more than $500K direct costs in any year; and (4) Communication with NHGRI Program Staff.
… Letters of Intent (LOIs) NHGRI requests Letters of Intent in all its RFAs and PARs. This section describes … are not binding, and do not enter into the review of a subsequent application. The information requested in an … note that NHGRI finds value in and encourages the sharing of smaller project sizes that do not meet the definition of …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… laude with a B.S. in animal sciences from the University of Vermont, his focus shifted towards research in molecular … University, where he combined his interests in early genome sequencing of the Escherichia coli genome with the … remains a premier facility for the rapid, accurate and cost-effective generation of DNA sequence data. …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics. … resume was unusual. His previous work painted him as more of an inventor and entrepreneur than an academic. Even before … grants provided by institutes such as the National Human Genome Research Institute (NHGRI), among others. Small …