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CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage
BACKGROUND: A typical Copy Number Variations (CNVs) detection process based on the depth of coverage in the Whole Exome Sequencing (WES) data consists of several steps: (I) calculating the depth of coverage in sequencing regions, (II) quality control, (III) normalizing the depth of coverage, (IV) ca...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897915/ https://www.ncbi.nlm.nih.gov/pubmed/35247967 http://dx.doi.org/10.1186/s12859-022-04617-x |