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Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH

Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated. CNVs contribute substantially to normal population variability, however, abnormal CNVs cause numerous genetic disord...

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Detalhes bibliográficos
Publicado no:Diagnostics (Basel)
Main Authors: Kucharík, Marcel, Budiš, Jaroslav, Hýblová, Michaela, Minárik, Gabriel, Szemes, Tomáš
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8071346/
https://ncbi.nlm.nih.gov/pubmed/33920867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11040708
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