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Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome Research Institute (NHGRI), and the National Cancer … cancer patient's protein-coding exome, the portion of the genome where many key cancer-related genes are located. …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the entire set of DNA …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. As usual, … in biology is understanding how genomic variation affects genome function to influence phenotypes. NHGRI recently …
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 …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… available to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug … the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging … NIH Director and Senior Investigator at the National Human Genome Research Institute (NHGRI), Francis S. Collins, M.D., …
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 …