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Comparative study of whole exome sequencing-based copy number variation detection tools
BACKGROUND: With the rapid development of whole exome sequencing (WES), an increasing number of tools are being proposed for copy number variation (CNV) detection based on this technique. However, no comprehensive guide is available for the use of these tools in clinical settings, which renders them...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059689/ https://www.ncbi.nlm.nih.gov/pubmed/32138645 http://dx.doi.org/10.1186/s12859-020-3421-1 |