Results 31 to 40 of about 10,781,581 (397)

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence [PDF]

, 2003
BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome.
Cheung, Joseph, Estivill, Xavier, Khaja, Razi, Lau, Ken, MacDonald, Jeffrey R, Scherer, Stephen W, Tsui, Lap-Chee   +6 more
core   +2 more sources

The human genome browser at UCSC.

Genome Research, 2002
As vertebrate genome sequences near completion and research refocuses to their analysis, the issue of effective genome annotation display becomes critical.
W. Kent, C. Sugnet, T. Furey, K. Roskin, Tom H. Pringle, A. Zahler, D. Haussler   +6 more
semanticscholar   +1 more source

Epigenetic Patterns in a Complete Human Genome

bioRxiv, 2021
The completion of the first telomere-to-telomere human genome, T2T-CHM13, enables exploration of the full epigenome, removing limitations previously imposed by the missing reference sequence.
Ariel Gershman, M. Sauria, P. Hook, Savannah J. Hoyt, Roham Razaghi, S. Koren, Nicolas Altemose, G. V. Caldas, Mitchell R. Vollger, Glennis A. Logsdon, A. Rhie, E. Eichler, M. Schatz, R. O’Neill, A. Phillippy, K. Miga, W. Timp   +16 more
semanticscholar   +1 more source

On the sequencing of the human genome [PDF]

Proceedings of the National Academy of Sciences, 2002
Two recent papers using different approaches reported draft sequences of the human genome. The international Human Genome Project (HGP) used the hierarchical shotgun approach, whereas Celera Genomics adopted the whole-genome shotgun (WGS) approach. Here, we analyze whether the latter paper provides a meaningful test of the WGS approach on a mammalian ...
Waterston, Robert H., Lander, Eric S., Sulston, John E.   +2 more
openaire   +3 more sources

From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]

, 2009
As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core   +1 more source

A map of human genome variation from population-scale sequencing

Nature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean   +7 more
semanticscholar   +1 more source

Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]

, 2015
Plasmodium knowlesi is a newly described zoonosis that causes malaria in the human population that can be severe and fatal. The study of P. knowlesi parasites from human clinical isolates is relatively new and, in order to obtain maximum information from
A Conesa, A Ecker, A Pain, A Sinha, AR Quinlan, B Langmead, B Singh, B Singh, C Aurrecoechea, C Daneshvar, C Hertz-Fowler, CJ Sutherland, EV Meyer, FA Fatih, H Li, I Kozarewa, J Cox-Singh, J Cox-Singh, Janet Cox-Singh, JB Koenderink, JC Barrett, JC Barrett, JC de Roode, JC Rayner, Julian C. Rayner, K Rutherford, KS Lee, L Mamanova, LH Miller, LH Miller, M Ashburner, M Rougemont, M Yuda, MA Ahmed, Md Atique Ahmed, Miguel M. Pinheiro, Osamu Kaneko, P Jones, P Librado, PC Divis, PM Jones, R Leinonen, R Tanizaki, R Tripathi, S Iwanaga, S Purcell, Sanjeev Krishna, Scott B. Millar, SE Lindner, SO Oyola, SW Roy, T Carver, T William, TC Yeo, Theo Sanderson, Thomas D. Otto, U Bronner, Woon Chan Lu, YL Lau   +58 more
core   +4 more sources

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

Human genome regulation [PDF]

Bioengineered, 2016
In the early 90s, Manfred Eigen lectured at Hoffman-La Roche and explained that a gene of 1,000 base pairs has 10605 combinations.
Christian Bach, Prabir Patra
openaire   +3 more sources

Genome-to-genome analysis highlights the effect of the human innate and adaptive immune systems on the hepatitis C virus [PDF]

, 2017
Outcomes of hepatitis C virus (HCV) infection and treatment depend on viral and host genetic factors. Here we use human genome-wide genotyping arrays and new whole-genome HCV viral sequencing technologies to perform a systematic genome-to-genome study of
Ansari, M. Azim, Ball, Jonathan, Barnes, Eleanor, Bartha, Istvan, Bonsall, David, Bowden, Rory, Brainard, Diana M., Burgess, Gary, Chaturvedi, Nimisha, Cooke, Graham, Dillon, John, Fellay, Jacques, Foster, Graham R., Gore, Charles, Guha, Neil, Halford, Rachel, Herath, Cham, Holmes, Chris, Howe, Anita, Hudson, Emma, Ip, Camilla L.C., Irving, William, Khakoo, Salim, Klenerman, Paul, Koletzki, Diana, Magri, Andrea, Martin, Natasha K., Massetto, Benedetta, Mbisa, Tamyo, McHutchison, John G., McKeating, Jane, McLauchlan, John, McVean, Gilean, Miners, Alec, Murray, Andrea, Nicholson, George, Pedergnana, Vincent, Piazza, Paolo, Shaw, Peter J., Simmonds, Peter, Smith, David, Spencer, Chris C. A., Targett-Adams, Paul, Thomson, Emma, Trebes, Amy, Vickerman, Peter, Von Delft, Annette, Zitzmann, Nicole   +47 more
core   +4 more sources