Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data

Data for our comparison study "Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data" published in BMC Genomics. We evaluated the performance of CNV detection algorithms for detection of large CNVs (millions of base pairs) from ultra-low-coverage whole-genome sequencing (WGS) data. Here, we provide the simulated sequencing data as well as the ground truth CNVs for the human pluripotent embryonic stem cell line H9 data used in the study. The ground truth CNVs of the simulated data are in the Supplementary File of the manuscript.

Related Organizations

University of Turku
Finland
Åbo Akademi University
Finland

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