Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions

Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range inform...

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Detalles Bibliográficos
Autores principales: Sethi, Riccha, Becker, Julia, de Graaf, Jos, Löwer, Martin, Suchan, Martin, Sahin, Ugur, Weber, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721175/
https://www.ncbi.nlm.nih.gov/pubmed/33226985
http://dx.doi.org/10.1371/journal.pcbi.1008397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721175/
https://www.ncbi.nlm.nih.gov/pubmed/33226985
http://dx.doi.org/10.1371/journal.pcbi.1008397

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