A random forest-based framework for genotyping and accuracy assessment of copy number variations

Detection of copy number variations (CNVs) is essential for uncovering genetic factors underlying human diseases. However, CNV detection by current methods is prone to error, and precisely identifying CNVs from paired-end whole genome sequencing (WGS) data is still challenging. Here, we present a fr...

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Vydáno v:NAR Genom Bioinform
Hlavní autoři: Zhuang, Xuehan, Ye, Rui, So, Man-Ting, Lam, Wai-Yee, Karim, Anwarul, Yu, Michelle, Ngo, Ngoc Diem, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Sham, Pak Chung
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Methart
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7671382/
https://ncbi.nlm.nih.gov/pubmed/33575619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nargab/lqaa071
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