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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Diagnostics (Basel)
Egile Nagusiak: Kucharík, Marcel, Budiš, Jaroslav, Hýblová, Michaela, Minárik, Gabriel, Szemes, Tomáš
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Sarrera elektronikoa: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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