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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. 
…  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 … Steps! Credit: Ernesto Del Aguila III, NHGRI   Fully Sequencing the Human Genome Credit: Harry Wedel, NHGRI   …
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.
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Medicine before returning to NHGRI and the NIH Intramural Sequencing Center in 2011. He is currently the deputy … sequence-ready clone contig maps in multiple species. Genome Research , 12:1277-1285. 2002. PubMed Thomas, J.W., … Ryan, J.F., Jamison, D.C., and Green, E.D. Comparative genome mapping in the sequence-based era: early experience …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… blueprints for life. … Did you know that just knowing the genome sequence of an organism only reveals part of the story … important to determine how that organism interprets its genome and uses that information to build and operate itself accordingly? Less than 2 percent of the human genome corresponds to "genes," but we know other parts are …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase … variants with clinical implications by using the latest sequencing technologies to examine rare and common variants … in patient electronic health records, and along with genome-wide testing, explore the roles of variants in a …
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 Institute (NCI) and the National Human Genome Research Institute (NHGRI), which are both part of the … genome analysis technologies, including large-scale genome sequencing. … The Cancer Genome Atlas … The Cancer Genome
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … word.   … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … usual processes and lead to a disease such as cancer.   … Sequencing simply means determining the exact order of the …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… in contributing to the completion of the human genome sequence, redefining the future of genomics. … When … grants provided by institutes such as the National Human Genome Research Institute (NHGRI), among others. Small … development ecosystem. Until recently, almost all genome sequencing methods required researchers to extract DNA from a …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… University, where he combined his interests in early genome sequencing of the Escherichia coli genome with the nascent field of bioinformatics. He used …