Suchergebnisse - "Shihab, Hashem A"

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features von Rogers, Mark F, Shihab, Hashem A, Mort, Matthew, Cooper, David N, Gaunt, Tom R, Campbell, Colin

“… Abstract Summary We present FATHMM-XF, a method for predicting pathogenic point mutations in the human genome. Drawing on an extensive feature set, FATHMM-XF …”
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An integrative approach to predicting the functional effects of non-coding and coding sequence variation von Shihab, Hashem A., Rogers, Mark F., Gough, Julian, Mort, Matthew, Cooper, David N., Day, Ian N. M., Gaunt, Tom R., Campbell, Colin

“… Motivation: Technological advances have enabled the identification of an increasingly large spectrum of single nucleotide variants within the human genome, …”
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The MR-Base platform supports systematic causal inference across the human phenome von Hemani, Gibran, Zheng, Jie, Elsworth, Benjamin, Wade, Kaitlin H, Haberland, Valeriia, Baird, Denis, Laurin, Charles, Burgess, Stephen, Bowden, Jack, Langdon, Ryan, Tan, Vanessa Y, Yarmolinsky, James, Shihab, Hashem A, Timpson, Nicholas J, Evans, David M, Relton, Caroline, Martin, Richard M, Davey Smith, George, Gaunt, Tom R, Haycock, Philip C

“… Results from genome-wide association studies (GWAS) can be used to infer causal relationships between phenotypes, using a strategy known as 2-sample Mendelian …”
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Systematic identification of genetic influences on methylation across the human life course von Gaunt, Tom R., Shihab, Hashem A., Hemani, Gibran, Min, Josine L., Woodward, Geoff, Lyttleton, Oliver, Zheng, Jie, Duggirala, Aparna, McArdle, Wendy L., Ho, Karen, Ring, Susan M., Evans, David M., Davey Smith, George, Relton, Caroline L.

“… Background The influence of genetic variation on complex diseases is potentially mediated through a range of highly dynamic epigenetic processes exhibiting …”
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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models von Shihab, Hashem A., Gough, Julian, Cooper, David N., Stenson, Peter D., Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M., Gaunt, Tom R.

“… ABSTRACT The rate at which nonsynonymous single nucleotide polymorphisms (nsSNPs) are being identified in the human genome is increasing dramatically owing to …”
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CScape: a tool for predicting oncogenic single-point mutations in the cancer genome von Rogers, Mark F., Shihab, Hashem A., Gaunt, Tom R., Campbell, Colin

“… For somatic point mutations in coding and non-coding regions of the genome, we propose CScape , an integrative classifier for predicting the likelihood that …”
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Maternal pre-pregnancy BMI and gestational weight gain, offspring DNA methylation and later offspring adiposity: findings from the Avon Longitudinal Study of Parents and Children von Sharp, Gemma C, Lawlor, Debbie A, Richmond, Rebecca C, Fraser, Abigail, Simpkin, Andrew, Suderman, Matthew, Shihab, Hashem A, Lyttleton, Oliver, McArdle, Wendy, Ring, Susan M, Gaunt, Tom R, Davey Smith, George, Relton, Caroline L

“… Evidence suggests that in utero exposure to undernutrition and overnutrition might affect adiposity in later life. Epigenetic modification is suggested as a …”
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Predicting the functional consequences of cancer-associated amino acid substitutions von Shihab, Hashem A., Gough, Julian, Cooper, David N., Day, Ian N. M., Gaunt, Tom R.

“… Motivation: The number of missense mutations being identified in cancer genomes has greatly increased as a consequence of technological advances and the …”
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Copy number variations and cognitive phenotypes in unselected populations von Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

“… The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as …”
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An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome von Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David N., Gaunt, Tom R., Campbell, Colin

“… Background Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single …”
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A Protein Domain and Family Based Approach to Rare Variant Association Analysis von Richardson, Tom G., Shihab, Hashem A., Rivas, Manuel A., McCarthy, Mark I., Campbell, Colin, Timpson, Nicholas J., Gaunt, Tom R.

“… It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same …”
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HIPred: an integrative approach to predicting haploinsufficient genes von Shihab, Hashem A, Rogers, Mark F, Campbell, Colin, Gaunt, Tom R

“… A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the …”
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Ranking non-synonymous single nucleotide polymorphisms based on disease concepts von Shihab, Hashem A, Gough, Julian, Mort, Matthew, Cooper, David N, Day, Ian NM, Gaunt, Tom R

“… As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers …”
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Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor von Elliott, Hannah R, Shihab, Hashem A, Lockett, Gabrielle A, Holloway, John W, McRae, Allan F, Smith, George Davey, Ring, Susan M, Gaunt, Tom R, Relton, Caroline L

“… Several studies have investigated the relationship between genetic variation and DNA methylation with respect to type 2 diabetes, but it is unknown if DNA …”
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EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization von Rackham, Owen J. L., Shihab, Hashem A., Johnson, Michael R., Petretto, Enrico

“… Methods to interpret personal genome sequences are increasingly required. Here, we report a novel framework (EvoTol) to identify disease-causing genes using …”
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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions von Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.

“… Summary Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) …”
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Mosaic structural variation in children with developmental disorders von King, Daniel A, Jones, Wendy D, Crow, Yanick J, Dominiczak, Anna F, Foster, Nicola A, Gaunt, Tom R, Harris, Jade, Hellens, Stephen W, Homfray, Tessa, Innes, Josie, Jones, Elizabeth A, Joss, Shelagh, Kulkarni, Abhijit, Mansour, Sahar, Morris, Andrew D, Parker, Michael J, Porteous, David J, Shihab, Hashem A, Smith, Blair H, Tatton-Brown, Katrina, Tolmie, John L, Trzaskowski, Maciej, Vasudevan, Pradeep C, Wakeling, Emma, Wright, Michael, Plomin, Robert, Timpson, Nicholas J, Hurles, Matthew E

“… Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss …”
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GTB – an online genome tolerance browser von Shihab, Hashem A., Rogers, Mark F., Ferlaino, Michael, Campbell, Colin, Gaunt, Tom R.

“… Background Accurate methods capable of predicting the impact of single nucleotide variants (SNVs) are assuming ever increasing importance. There exists a …”
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Collapsed methylation quantitative trait loci analysis for low frequency and rare variants von Richardson, Tom G, Shihab, Hashem A, Hemani, Gibran, Zheng, Jie, Hannon, Eilis, Mill, Jonathan, Carnero-Montoro, Elena, Bell, Jordana T, Lyttleton, Oliver, McArdle, Wendy L, Ring, Susan M, Rodriguez, Santiago, Campbell, Colin, Smith, George Davey, Relton, Caroline L, Timpson, Nicholas J, Gaunt, Tom R

“… Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the …”
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Frequency of KLK3 gene deletions in the general population von Rodriguez, Santiago, Al-Ghamdi, Osama A, Guthrie, Philip Ai, Shihab, Hashem A, McArdle, Wendy, Gaunt, Tom, Alharbi, Khalid K, Day, Ian Nm

“… Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and …”
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