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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Formato: | article |
Lenguaje: | EN |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://doaj.org/article/0dad08f6f6014de693dd7f26a30db70f |
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