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Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… Maria Teresa Acosta, M.D. … Dr. Acosta is a board-certified pediatric neurologist, originally from Colombia. She has additional training in pediatric neurophysiology and pediatric neuropsychology in Spain and the Netherlands, …
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.
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National … Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will … insights into the non-coding regions of the human genome. During the COVID-19 pandemic, NISC helped researchers …
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 …
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.
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 …
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 … 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.