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SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences from Reference Genomes

2019-10-30

Abstract excerpt

Copy number variants are insertions and deletions of 1 kb or larger in a genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or whole-exome sequencing data. However, there is poor agreement in the results from these applications. Simulated datasets containing copy number varian...

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Literature Corpus work
c0817631-44ab-5867-883b-01275e1c27ac
DOI
10.1101/824128
Open publication

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SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences from Reference GenomesDOI 10.1101/824128
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