Allele-specific copy-number discovery from whole-genome and whole-exome sequencing
Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV detect...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538801/ |