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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this a...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839673/ https://www.ncbi.nlm.nih.gov/pubmed/27100738 http://dx.doi.org/10.1371/journal.pcbi.1004873 |