DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
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| Title: | DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data. |
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| Authors: | Khazeeva G; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Sablauskas K; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., van der Sanden B; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Kwint M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Hinne M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands., van Gerven M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands., Yntema H; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Vissers L; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands. |
| Source: | Nucleic acids research [Nucleic Acids Res] 2022 Sep 23; Vol. 50 (17), pp. e97. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1362-4962 |
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| DOI: | 10.1093/nar/gkac511 |