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

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NIAID Data Ecosystem2026-03-12 收录
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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. The samples are from different passages of the human pluripotent embryonic stem cell line H9 sequenced using Illumina Miseq device with 2x150 bp chemistry. The read coverage of the cell line samples varies from 0.06 to 0.13x. The CNV list of the SNP array -based validation can be found in Zenodo (link in the manuscript).

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2021-04-29
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