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

Abstract 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...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Ksenia Lavrichenko, Stefan Johansson, Inge Jonassen
Format: article
Langue:EN
Publié: BMC 2021
Sujets:
CNV
Accès en ligne:https://doaj.org/article/4f60f00ed0f7489ab7ca3dac99e3b042
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