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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...
Tallennettuna:
| Päätekijät: | , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4147927/ https://ncbi.nlm.nih.gov/pubmed/25161258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btu475 |
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