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An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis
Motivation: Despite the prevalence of copy number variation (CNV) in the human genome, only a handful of confirmed associations have been reported between common CNVs and complex disease. This may be partially attributed to the difficulty in accurately genotyping CNVs in large cohorts using array-ba...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436806/ https://www.ncbi.nlm.nih.gov/pubmed/22962454 http://dx.doi.org/10.1093/bioinformatics/bts379 |