Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

PURPOSE: Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols and a limited number of clinical sampl...

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Detalles Bibliográficos
Autores principales: Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752280/
https://www.ncbi.nlm.nih.gov/pubmed/30563988
http://dx.doi.org/10.1038/s41436-018-0397-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752280/
https://www.ncbi.nlm.nih.gov/pubmed/30563988
http://dx.doi.org/10.1038/s41436-018-0397-6

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