SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
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| Title: | SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation. |
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| Authors: | Salz R; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Saraiva-Agostinho N; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK., Vorsteveld E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, and Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Kersten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Stemerdink M; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Allen J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK., Volders PJ; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Laboratory of Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, 3500, Belgium., Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, and Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., 't Hoen PAC; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. peter-bram.thoen@radboudumc.nl. |
| Source: | BMC genomics [BMC Genomics] 2023 Jun 06; Vol. 24 (1), pp. 305. Date of Electronic Publication: 2023 Jun 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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