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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8637281/ https://www.ncbi.nlm.nih.gov/pubmed/34868242 http://dx.doi.org/10.3389/fgene.2021.761791 |