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MutationTaster2: mutation prediction for the deep-sequencing age
Schwarz, Jana Marie, Cooper, David N, Schuelke, Markus, Seelow, Dominik
Published in Nature methods (01.04.2014)
Published in Nature methods (01.04.2014)
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MutationTaster2021
Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N, Schwarz, Jana Marie, Seelow, Dominik
Published in Nucleic acids research (02.07.2021)
Published in Nucleic acids research (02.07.2021)
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.
Published in Human genetics (01.06.2017)
Published in Human genetics (01.06.2017)
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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.
Published in Human genetics (01.10.2020)
Published in Human genetics (01.10.2020)
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Jagadeesh, Karthik A, Wenger, Aaron M, Berger, Mark J, Guturu, Harendra, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Bejerano, Gill
Published in Nature genetics (01.12.2016)
Published in Nature genetics (01.12.2016)
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FATHMM-XF: accurate prediction of pathogenic point mutations via extended features
Rogers, Mark F, Shihab, Hashem A, Mort, Matthew, Cooper, David N, Gaunt, Tom R, Campbell, Colin
Published in Bioinformatics (01.02.2018)
Published in Bioinformatics (01.02.2018)
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Published in Nature communications (20.11.2020)
Published in Nature communications (20.11.2020)
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NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads
Hu, Jiang, Wang, Zhuo, Sun, Zongyi, Hu, Benxia, Ayoola, Adeola Oluwakemi, Liang, Fan, Li, Jingjing, Sandoval, José R., Cooper, David N., Ye, Kai, Ruan, Jue, Xiao, Chuan-Le, Wang, Depeng, Wu, Dong-Dong, Wang, Sheng
Published in Genome Biology (26.04.2024)
Published in Genome Biology (26.04.2024)
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An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Shihab, Hashem A., Rogers, Mark F., Gough, Julian, Mort, Matthew, Cooper, David N., Day, Ian N. M., Gaunt, Tom R., Campbell, Colin
Published in Bioinformatics (15.05.2015)
Published in Bioinformatics (15.05.2015)
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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Published in Human genetics (01.01.2014)
Published in Human genetics (01.01.2014)
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The NF1 somatic mutational landscape in sporadic human cancers
Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena
Published in Human genomics (21.06.2017)
Published in Human genomics (21.06.2017)
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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
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.
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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The mutation significance cutoff: gene-level thresholds for variant predictions
Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter D, Gleeson, Joseph, Cooper, David N, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent
Published in Nature methods (01.02.2016)
Published in Nature methods (01.02.2016)
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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.
Published in Human mutation (01.05.2015)
Published in Human mutation (01.05.2015)
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Automated inference of molecular mechanisms of disease from amino acid substitutions
Li, Biao, Krishnan, Vidhya G., Mort, Matthew E., Xin, Fuxiao, Kamati, Kishore K., Cooper, David N., Mooney, Sean D., Radivojac, Predrag
Published in Bioinformatics (01.11.2009)
Published in Bioinformatics (01.11.2009)
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Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization
Lin, Siying, Zhang, Haoyang, Qi, Mengling, Cooper, David N., Yang, Yuedong, Yang, Yuanhao, Zhao, Huiying
Published in NeuroImage (Orlando, Fla.) (01.10.2023)
Published in NeuroImage (Orlando, Fla.) (01.10.2023)
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Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
Xue, Yali, Prado-Martinez, Javier, Sudmant, Peter H., Narasimhan, Vagheesh, Ayub, Qasim, Szpak, Michal, Frandsen, Peter, Chen, Yuan, Yngvadottir, Bryndis, Cooper, David N., de Manuel, Marc, Hernandez-Rodriguez, Jessica, Lobon, Irene, Siegismund, Hans R., Pagani, Luca, Quail, Michael A., Hvilsom, Christina, Mudakikwa, Antoine, Eichler, Evan E., Cranfield, Michael R., Marques-Bonet, Tomas, Tyler-Smith, Chris, Scally, Aylwyn
Published in Science (American Association for the Advancement of Science) (10.04.2015)
Published in Science (American Association for the Advancement of Science) (10.04.2015)
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