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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Detalles Bibliográficos
Autores principales: Chander, Varuna, Gibbs, Richard A, Sedlazeck, Fritz J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Research
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

Internet

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

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