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Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum
We observed that current high-throughput sequencing approaches only detected a fraction of the full size-spectrum of insertions, deletions, and copy number variants compared with a previously published, Sanger-sequenced human genome. The sensitivity for detection was the lowest in the 100- to 10,000...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Genetics Society of America
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887540/ https://www.ncbi.nlm.nih.gov/pubmed/24192839 http://dx.doi.org/10.1534/g3.113.008797 |