Literature DB >> 36109679

SVision: a deep learning approach to resolve complex structural variants.

Jiadong Lin1,2,3,4, Songbo Wang1,2,3, Peter A Audano5, Deyu Meng1,6,7, Jacob I Flores5, Walter Kosters4, Xiaofei Yang1,8, Peng Jia1,2,3, Tobias Marschall9, Christine R Beck5,10, Kai Ye11,12,13,14,15.   

Abstract

Complex structural variants (CSVs) encompass multiple breakpoints and are often missed or misinterpreted. We developed SVision, a deep-learning-based multi-object-recognition framework, to automatically detect and haracterize CSVs from long-read sequencing data. SVision outperforms current callers at identifying the internal structure of complex events and has revealed 80 high-quality CSVs with 25 distinct structures from an individual genome. SVision directly detects CSVs without matching known structures, allowing sensitive detection of both common and previously uncharacterized complex rearrangements.
© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.

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Year:  2022        PMID: 36109679     DOI: 10.1038/s41592-022-01609-w

Source DB:  PubMed          Journal:  Nat Methods        ISSN: 1548-7091            Impact factor:   47.990


  1 in total

1.  VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing.

Authors:  Davide Bolognini; Ashley Sanders; Jan O Korbel; Alberto Magi; Vladimir Benes; Tobias Rausch
Journal:  Bioinformatics       Date:  2020-02-15       Impact factor: 6.937

  1 in total

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