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News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each … The two universities will become the DNA Sequencing Core sites for the UDN. The UDN also includes …
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 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
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
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, …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… most of his days in extreme pain. He could barely walk and used a wheelchair. He saw numerous doctors in his … seeking answers as to why he was experiencing joint pain and recurrent high fevers. None could find the reason. Today, this young man who loves math, history and science - now 15 - is winning dance contests at his …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… When the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four … were able to move exome sequencing into efficient, large-scale production. "We knew that discovery would depend …