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    SVNN: an efficient PacBio-specific pipeline for structural variations calling using neural networks

    , Article BMC Bioinformatics ; Volume 22, Issue 1 , 2021 ; 14712105 (ISSN) Akbarinejad, S ; Hadadian Nejad Yousefi, M ; Goudarzi, M ; Sharif University of Technology
    BioMed Central Ltd  2021
    Abstract
    Background: Once aligned, long-reads can be a useful source of information to identify the type and position of structural variations. However, due to the high sequencing error of long reads, long-read structural variation detection methods are far from precise in low-coverage cases. To be accurate, they need to use high-coverage data, which in turn, results in an extremely time-consuming pipeline, especially in the alignment phase. Therefore, it is of utmost importance to have a structural variation calling pipeline which is both fast and precise for low-coverage data. Results: In this paper, we present SVNN, a fast yet accurate, structural variation calling pipeline for PacBio long-reads... 

    SVNN: an efficient PacBio-specific pipeline for structural variations calling using neural networks

    , Article BMC Bioinformatics ; Volume 22, Issue 1 , 2021 ; 14712105 (ISSN) Akbarinejad, S ; Hadadian Nejad Yousefi, M ; Goudarzi, M ; Sharif University of Technology
    BioMed Central Ltd  2021
    Abstract
    Background: Once aligned, long-reads can be a useful source of information to identify the type and position of structural variations. However, due to the high sequencing error of long reads, long-read structural variation detection methods are far from precise in low-coverage cases. To be accurate, they need to use high-coverage data, which in turn, results in an extremely time-consuming pipeline, especially in the alignment phase. Therefore, it is of utmost importance to have a structural variation calling pipeline which is both fast and precise for low-coverage data. Results: In this paper, we present SVNN, a fast yet accurate, structural variation calling pipeline for PacBio long-reads...