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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Detalles Bibliográficos
Autores principales: Kuśmirek, Wiktor, Szmurło, Agnieszka, Wiewiórka, Marek, Nowak, Robert, Gambin, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537193/
https://www.ncbi.nlm.nih.gov/pubmed/31138108
http://dx.doi.org/10.1186/s12859-019-2889-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537193/
https://www.ncbi.nlm.nih.gov/pubmed/31138108
http://dx.doi.org/10.1186/s12859-019-2889-z

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