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Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions
Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range inform...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721175/ https://www.ncbi.nlm.nih.gov/pubmed/33226985 http://dx.doi.org/10.1371/journal.pcbi.1008397 |