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Evaluation of computational genotyping of structural variation for clinical diagnoses
BACKGROUND: Structural variation (SV) plays a pivotal role in genetic disease. The discovery of SVs based on short DNA sequence reads from next-generation DNA sequence methods is error-prone, with low sensitivity and high false discovery rates. These shortcomings can be partially overcome with exten...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732172/ https://www.ncbi.nlm.nih.gov/pubmed/31494671 http://dx.doi.org/10.1093/gigascience/giz110 |