EOSAL–CNV for Easy and Rapid Detection of CNVs by Fragment Analysis
Author:
Publisher
Springer US
Link
https://link.springer.com/content/pdf/10.1007/978-1-0716-2950-5_13
Reference23 articles.
1. Alkan C, Coe BP, Eichler EE (2011) Genome structural variation discovery and genotyping. Nat Rev Genet 12:363–376. https://doi.org/10.1038/nrg2958
2. McCarroll SA, Altshuler DM (2007) Copy-number variation and association studies of human disease. Nat Genet 39:S37–S42. https://doi.org/10.1038/ng2080
3. Zhang F, Gu W, Hurles ME, Lupski JR (2009) Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10:451–481. https://doi.org/10.1146/annurev.genom.9.081307.164217
4. Moreno-Cabrera JM, Del Valle J, Castellanos E et al (2020) Evaluation of CNV detection tools for NGS panel data in genetic diagnostics. Eur J Hum Genet 28:1645–1655. https://doi.org/10.1038/s41431-020-0675-z
5. Roca I, González-Castro L, Fernández H et al (2019) Free-access copy-number variant detection tools for targeted next-generation sequencing data. Mutat Res 779:114–125. https://doi.org/10.1016/j.mrrev.2019.02.005
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