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Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1041 - 10
' Accurate detection of somatic mutations is still a challenge in cancer analysis. Here we present NeuSomatic, the first convolutional neural network approach... 
POINT MUTATIONS | ALGORITHMS | SIMULATION | CANCER | MULTIDISCIPLINARY SCIENCES | Mutation | Neural networks | Artificial neural networks | Cancer | Index Medicus
Journal Article
Bioinformatics (Oxford, England), ISSN 1367-4803, 12/2016, Volume 32, Issue 24, pp. 3829 - 3832
LongISLND is a software package designed to simulate sequencing data according to the characteristics of third generation, single-molecule sequencing... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENOME | READS | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Computational Biology - methods | Sequence Alignment | Software | High-Throughput Nucleotide Sequencing - methods | Computer Simulation | Index Medicus | Applications Notes
Journal Article
Cancer Research, ISSN 0008-5472, 07/2018, Volume 78, Issue 13 Supplement, pp. 5293 - 5293
Journal Article
Bioinformatics, ISSN 1367-4803, 12/2016, Volume 32, Issue 24, pp. 3829 - 3832
Journal Article
BMC genomics, 01/2016, Volume 17, p. 64
The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark... 
Genomic Structural Variation | Pedigree | Genomics | Humans | Molecular Sequence Annotation | Polymorphism, Single Nucleotide - genetics | Benchmarking | High-Throughput Nucleotide Sequencing | Software | Genome, Human
Journal Article
Cancer Research, ISSN 0008-5472, 08/2015, Volume 75, Issue 15 Supplement, pp. LB-306 - LB-306
Journal Article
by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
Journal Article
by Sudmant, Peter H and Rausch, Tobias and Gardner, Eugene J and Handsaker, Robert E and Abyzov, Alexej and Huddleston, John and Zhang, Yan and Ye, Kai and Jun, Goo and Fritz, Markus His-Yang and Konkel, Miriam K and Malhotra, Ankit and Stütz, Adrian M and Shi, Xinghua and Casale, Francesco Paolo and Chen, Jieming and Hormozdiari, Fereydoun and Dayama, Gargi and Chen, Ken and Malig, Maika and Chaisson, Mark J.P and Walter, Klaudia and Meiers, Sascha and Kashin, Seva and Garrison, Erik and Auton, Adam and Lam, Hugo Y.K and Mu, Xinmeng Jasmine and Alkan, Can and Antaki, Danny and Bae, Taejeong and Cerveira, Eliza and Chines, Peter and Chong, Zechen and Clarke, Laura and Dal, Elif and Ding, Li and Emery, Sarah and Fan, Xian and Gujral, Madhusudan and Kahveci, Fatma and Kidd, Jeffrey M and Kong, Yu and Lameijer, Eric-Wubbo and McCarthy, Shane and Flicek, Paul and Gibbs, Richard A and Marth, Gabor and Mason, Christopher E and Menelaou, Androniki and Muzny, Donna M and Nelson, Bradley J and Noor, Amina and Parrish, Nicholas F and Pendleton, Matthew and Quitadamo, Andrew and Raeder, Benjamin and Schadt, Eric E and Romanovitch, Mallory and Schlattl, Andreas and Sebra, Robert and Shabalin, Andrey A and Untergasser, Andreas and Walker, Jerilyn A and Wang, Min and Yu, Fuli and Zhang, Chengsheng and Zhang, Jing and Zheng-Bradley, Xiangqun and Zhou, Wanding and Zichner, Thomas and Sebat, Jonathan and Batzer, Mark A and McCarroll, Steven A and Mills, Ryan E and Gerstein, Mark B and Bashir, Ali and Stegle, Oliver and Devine, Scott E and Lee, Charles and Eichler, Evan E and Korbel, Jan O and Genomes Project Consortium and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 09/2015, Volume 526, Issue 7571, pp. 75 - 81
Journal Article
Cell, ISSN 0092-8674, 03/2012, Volume 148, Issue 6, pp. 1293 - 1307
Journal Article
by Altshuler, David L and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Collins, Francis S and De La Vega, Francisco M and Donnelly, Peter and Egholm, Michael and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Knoppers, Bartha M and Lander, Eric S and Lehrach, Hans and Mardis, Elaine R and McVean, Gil A and Nickerson, Debbie A and Peltonen, Leena and Schafer, Alan J and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Deiros, David and Metzker, Mike and Muzny, Donna and Reid, Jeff and Wheeler, David and Wang, Shenzhen Jun and Li, Jingxiang and Jian, Min and Li, Guoqing and Li, Ruiqiang and Liang, Huiqing and Tian, Geng and Wang, Bo and Wang, Jian and Wang, Wei and Yang, Huanming and Zhang, Xiuqing and Zheng, Huisong and Ambrogio, Lauren and Bloom, Toby and Cibulskis, Kristian and Fennell, Tim J and Jaffe, David B and Shefler, Erica and Sougnez, Carrie L and Bentley, Illumina David R and Gormley, Niall and Humphray, Sean and Kingsbury, Zoya and Koko-Gonzales, Paula and Stone, Jennifer and Mc Kernan, Kevin J and Costa, Gina L and Ichikawa, Jeffry K and Lee, Clarence C and Sudbrak, Ralf and Borodina, Tatiana A and Dahl, Andreas and Davydov, Alexey N and Marquardt, Peter and Mertes, Florian and Nietfeld, Wilfiried and Rosenstiel, Philip and Schreiber, Stefan and Soldatov, Aleksey V and Timmermann, Bernd and Tolzmann, Marius and Affourtit, Jason and Ashworth, Dana and Attiya, Said and Bachorski, Melissa and Buglione, Eli and Burke, Adam and Caprio, Amanda and Celone, Christopher and Clark, Shauna and Conners, David and Desany, Brian and Gu, Lisa and Guccione, Lorri and Kao, Kalvin and Kebbel, Andrew and Knowlton, Jennifer and Labrecque, Matthew and McDade, Louise and Mealmaker, Craig and Minderman, Melissa and Nawrocki, Anne and Niazi, Faheem and Pareja, Kristen and Ramenani, Ravi and Riches, David and Song, Wanmin and Turcotte, Cynthia and Wang, Shally and Dooling, David and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 10/2010, Volume 467, Issue 7319, pp. 1061 - 1073
Journal Article