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cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data
Motivation: Exome sequencing technologies have transformed the field of Mendelian genetics and allowed for efficient detection of genomic variants in protein-coding regions. The target enrichment process that is intrinsic to exome sequencing is inherently imperfect, generating large amounts of unint...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147927/ https://www.ncbi.nlm.nih.gov/pubmed/25161258 http://dx.doi.org/10.1093/bioinformatics/btu475 |