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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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Bibliografski detalji
Izdano u:Gigascience
Glavni autori: Chander, Varuna, Gibbs, Richard A, Sedlazeck, Fritz J
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2019
Teme:
Online pristup: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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