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Improvement of large copy number variant detection by whole genome nanopore sequencing
INTRODUCTION: Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore technologies can also characterize their boundaries with single-base accuracy, owing to the kilobase-long reads that encompass either fu...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403694/ https://www.ncbi.nlm.nih.gov/pubmed/36323370 http://dx.doi.org/10.1016/j.jare.2022.10.012 |