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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic component. However, detecting copy number from exome sequencing is challenging because of the noncontiguous nature of the captured exons. This i...
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Main Authors: | , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2012
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3484655/ https://ncbi.nlm.nih.gov/pubmed/23040492 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.005 |
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