Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Steven E Brenner"'
Publikováno v:
PLoS Computational Biology, Vol 14, Iss 11, p e1006494 (2018)
Research in computational biology has given rise to a vast number of methods developed to solve scientific problems. For areas in which many approaches exist, researchers have a hard time deciding which tool to select to address a scientific challeng
Externí odkaz:
https://doaj.org/article/eddcc878cd624c8096ba1e8ec6dc4395
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-15 (2024)
Abstract Background Variant interpretation is essential for identifying patients’ disease-causing genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact Predictors (VIPs), also known as Variant Effect Predictors
Externí odkaz:
https://doaj.org/article/19ffcbe82d9040c980f663f63c5ebc2e
Autor:
Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi
Externí odkaz:
https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 6, p e1004317 (2015)
Externí odkaz:
https://doaj.org/article/91e3e89ba9fb4043836977d97e04e95c
Autor:
Brian P Anton, Yi-Chien Chang, Peter Brown, Han-Pil Choi, Lina L Faller, Jyotsna Guleria, Zhenjun Hu, Niels Klitgord, Ami Levy-Moonshine, Almaz Maksad, Varun Mazumdar, Mark McGettrick, Lais Osmani, Revonda Pokrzywa, John Rachlin, Rajeswari Swaminathan, Benjamin Allen, Genevieve Housman, Caitlin Monahan, Krista Rochussen, Kevin Tao, Ashok S Bhagwat, Steven E Brenner, Linda Columbus, Valérie de Crécy-Lagard, Donald Ferguson, Alexey Fomenkov, Giovanni Gadda, Richard D Morgan, Andrei L Osterman, Dmitry A Rodionov, Irina A Rodionova, Kenneth E Rudd, Dieter Söll, James Spain, Shuang-Yong Xu, Alex Bateman, Robert M Blumenthal, J Martin Bollinger, Woo-Suk Chang, Manuel Ferrer, Iddo Friedberg, Michael Y Galperin, Julien Gobeill, Daniel Haft, John Hunt, Peter Karp, William Klimke, Carsten Krebs, Dana Macelis, Ramana Madupu, Maria J Martin, Jeffrey H Miller, Claire O'Donovan, Bernhard Palsson, Patrick Ruch, Aaron Setterdahl, Granger Sutton, John Tate, Alexander Yakunin, Dmitri Tchigvintsev, Germán Plata, Jie Hu, Russell Greiner, David Horn, Kimmen Sjölander, Steven L Salzberg, Dennis Vitkup, Stanley Letovsky, Daniel Segrè, Charles DeLisi, Richard J Roberts, Martin Steffen, Simon Kasif
Publikováno v:
PLoS Biology, Vol 11, Iss 8, p e1001638 (2013)
Externí odkaz:
https://doaj.org/article/08400167d9dc4fa29d1dc69cd0f6756f
Autor:
Kasper Daniel Hansen, Liana F Lareau, Marco Blanchette, Richard E Green, Qi Meng, Jan Rehwinkel, Fabian L Gallusser, Elisa Izaurralde, Donald C Rio, Sandrine Dudoit, Steven E Brenner
Publikováno v:
PLoS Genetics, Vol 5, Iss 6, p e1000525 (2009)
Alternative mRNA splicing adds a layer of regulation to the expression of thousands of genes in Drosophila melanogaster. Not all alternative splicing results in functional protein; it can also yield mRNA isoforms with premature stop codons that are d
Externí odkaz:
https://doaj.org/article/e785901ff7654c09996800ee0afee709
Autor:
Shibu Yooseph, Granger Sutton, Douglas B Rusch, Aaron L Halpern, Shannon J Williamson, Karin Remington, Jonathan A Eisen, Karla B Heidelberg, Gerard Manning, Weizhong Li, Lukasz Jaroszewski, Piotr Cieplak, Christopher S Miller, Huiying Li, Susan T Mashiyama, Marcin P Joachimiak, Christopher van Belle, John-Marc Chandonia, David A Soergel, Yufeng Zhai, Kannan Natarajan, Shaun Lee, Benjamin J Raphael, Vineet Bafna, Robert Friedman, Steven E Brenner, Adam Godzik, David Eisenberg, Jack E Dixon, Susan S Taylor, Robert L Strausberg, Marvin Frazier, J Craig Venter
Publikováno v:
PLoS Biology, Vol 5, Iss 3, p e16 (2007)
Metagenomics projects based on shotgun sequencing of populations of micro-organisms yield insight into protein families. We used sequence similarity clustering to explore proteins with a comprehensive dataset consisting of sequences from available da
Externí odkaz:
https://doaj.org/article/d3c8becc5a9947e1bccad4901b6de6ec
Publikováno v:
PLoS Computational Biology, Vol 1, Iss 5, p e45 (2005)
We present a statistical graphical model to infer specific molecular function for unannotated protein sequences using homology. Based on phylogenomic principles, SIFTER (Statistical Inference of Function Through Evolutionary Relationships) accurately
Externí odkaz:
https://doaj.org/article/bcec9c085d7c46e5b7bd50186b444dc5
Publikováno v:
PLoS Computational Biology, Vol 1, Iss 1, p e4 (2005)
Externí odkaz:
https://doaj.org/article/bf45061ae1ee4b52ab8141715675758d
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as the
Externí odkaz:
https://doaj.org/article/8ec62b805d334a6381c9b3be4c6d0095