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Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance

BACKGROUND: There are over 25 tools dedicated for the detection of Copy Number Variants (CNVs) using Whole Exome Sequencing (WES) data based on read depth analysis. The tools reported consist of several steps, including: (i) calculation of read depth for each sequencing target, (ii) normalization, (...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Kuśmirek, Wiktor, Szmurło, Agnieszka, Wiewiórka, Marek, Nowak, Robert, Gambin, Tomasz
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6537193/
https://ncbi.nlm.nih.gov/pubmed/31138108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-019-2889-z
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