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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, (...
Autores principales: | Kuśmirek, Wiktor, Szmurło, Agnieszka, Wiewiórka, Marek, Nowak, Robert, Gambin, Tomasz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
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 |
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