AMYCNE: Confident copy number assessment using whole genome sequencing data

Copy number variations (CNVs) within the human genome have been linked to a diversity of inherited diseases and phenotypic traits. The currently used methodology to measure copy numbers has limited resolution and/or precision, especially for regions with more than 4 copies. Whole genome sequencing (...

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Detalles Bibliográficos
Autores principales: Eisfeldt, Jesper, Nilsson, Daniel, Andersson-Assarsson, Johanna C., Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868770/
https://www.ncbi.nlm.nih.gov/pubmed/29579039
http://dx.doi.org/10.1371/journal.pone.0189710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868770/
https://www.ncbi.nlm.nih.gov/pubmed/29579039
http://dx.doi.org/10.1371/journal.pone.0189710

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