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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...
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| Publicado no: | Gigascience |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732172/ https://ncbi.nlm.nih.gov/pubmed/31494671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giz110 |
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