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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Bellos, Evangelos, Coin, Lachlan J. M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2014
Gaiak:
Sarrera elektronikoa: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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