Evaluation of Germline Structural Variant Calling Methods for Nanopore Sequencing Data

Structural variants (SVs) are genomic rearrangements that involve at least 50 nucleotides and are known to have a serious impact on human health. While prior short-read sequencing technologies have often proved inadequate for a comprehensive assessment of structural variation, more recent long reads...

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Autores principales: Davide Bolognini , Alberto Magi 
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/0dad08f6f6014de693dd7f26a30db70f
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