Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell

Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4×) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV, particularly pathogenic SV for supporting clinical diagnosi...

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Detalles Bibliográficos
Autores principales: Leung, Henry C. M., Yu, Huijing, Zhang, Yifan, Leung, Wing Sze, Lo, Ivan F. M., Luk, Ho Ming, Law, Wai-Chun, Ma, Ka Kui, Wong, Chak Lim, Wong, Yat Sing, Luo, Ruibang, Lam, Tak-Wah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8927474/
https://www.ncbi.nlm.nih.gov/pubmed/35296758
http://dx.doi.org/10.1038/s41598-022-08576-4

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