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

Abstract 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) normaliz...

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Bibliographic Details
Main Authors: Wiktor Kuśmirek, Agnieszka Szmurło, Marek Wiewiórka, Robert Nowak, Tomasz Gambin
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Bioinformatics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12859-019-2889-z