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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

BACKGROUND: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection of...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:BMC Bioinformatics
Κύριοι συγγραφείς: Chen, Yong, Zhao, Li, Wang, Yi, Cao, Ming, Gelowani, Violet, Xu, Mingchu, Agrawal, Smriti A., Li, Yumei, Daiger, Stephen P., Gibbs, Richard, Wang, Fei, Chen, Rui
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2017
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5335817/
https://ncbi.nlm.nih.gov/pubmed/28253855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-017-1566-3
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