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Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim of this...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7784926/ https://ncbi.nlm.nih.gov/pubmed/32561899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0675-z |
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