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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Motivation: Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants (CNVs) contribute to the etiology of these disorders. However, calling CNVs from exome sequence data is challenging. A typical read d...
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| Główni autorzy: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Oxford University Press
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3476336/ https://ncbi.nlm.nih.gov/pubmed/22942019 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts526 |
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