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Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data

BACKGROUND: SNP arrays, short- and long-read genome sequencing are genome-wide high-throughput technologies that may be used to assay copy number variants (CNVs) in a personal genome. Each of these technologies comes with its own limitations and biases, many of which are well-known, but not all of t...

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Detalles Bibliográficos
Autores principales: Lavrichenko, Ksenia, Johansson, Stefan, Jonassen, Inge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596897/
https://www.ncbi.nlm.nih.gov/pubmed/34789167
http://dx.doi.org/10.1186/s12864-021-08082-3