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About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences … of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers … Scientists Sequence Last Piece of The Human Genome: The Y Chromosome Science: ‘Most troublesome …
Media Availability
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. …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic … This includes a number of coordinated large scale sequencing projects such as the HapMap and 1000 Genomes …
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 …
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, …
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 …
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.
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 …
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, ensuring … sequence-ready clone contig maps in multiple species . Genome Research , 12:1277-1285. 2002. Thomas, J.W., LaMantia, …
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., …