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Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis
BACKGROUND: Copy number variation (CNV) analysis is an integral component of the study of human genomes in both research and clinical settings. Array-based CNV analysis is the current first-tier approach in clinical cytogenetics. Decreasing costs in high-throughput sequencing and cloud computing hav...
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| Publicado no: | J Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8131063/ https://ncbi.nlm.nih.gov/pubmed/30061371 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105272 |
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