Search Results
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Happy New Year to you and yours — and here’s to a 2024 featuring many breakthrough genomics … Last year ended with exciting news from the U.S. Food and Drug Administration (FDA), which approved two gene … technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… sees an incomplete human genome sequence, with A, C, Ts and Gs, but is still missing some bases. She has doubts and says "Hmm, this doesn't look complete to me." … must first determine the sequence of random pieces of DNA and then use those smaller sequences to put the whole genome …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… Institutes of Health have completed a detailed genomic analysis, known as the PanCancer Atlas, on a data set of molecular and clinical information from over 10,000 tumors representing … September 27-29, 2018, that will discuss the future of large-scale cancer studies, with a session focusing on the …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… in human sexual development are spread across the genome and very complex, giving rise to the array of human sex … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”
… Long-Read DNA Sequencing … While some sequencing technologies produce reads that are only a few … of thousands of nucleotides long, known as “long-read DNA sequencing.” … DNA sequencing technologies determine the order of the base pairs … to assemble the sequences of full chromosomes. While some sequencing technologies produce reads that are only a few 100 …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of … incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … a method that leaves DNA molecules largely intact. These large DNA molecules were then analyzed by two different …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… Phillippy to provide scientific leadership and shape direction of computational genomics in institute’s … as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … himself as an expert in genome sequence assembly and analysis not only within NIH but in the broader scientific …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” technologies, …
Educational Resources
Linkage is the close association of genes or other DNA sequences on the same chromosome.
… DNA Sequence, Linkage Analysis, Family Health History, Chromosome … Linkage, as related to genetics and genomics, refers to the closeness of genes or other DNA …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… Reports of genomic sequencing being applied to the medical care of individual … regarding the most promising clinical applications and the specific diseases or individual susceptibilities most … policies, standard procedures (including simplified analysis and interpretive tools), and improved to integrating …