Results 31 to 40 of about 10,751,278 (348)

CADD: predicting the deleteriousness of variants throughout the human genome

Nucleic Acids Res., 2018
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders.
Philipp Rentzsch, D. Witten, G. Cooper, J. Shendure, Martin Kircher   +4 more
semanticscholar   +1 more source

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

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

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

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

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

The Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby   +5 more
doaj   +1 more source

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

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

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

Molecular Cytogenetics, 2018
Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki   +9 more
doaj   +1 more source