A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing

Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants, especially in repetitive or homologous regions, can be problematic due to uneve...

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Detalles Bibliográficos
Autores principales: Zeng, Qiandong, Leach, Natalia T., Zhou, Zhaoqing, Zhu, Hui, Smith, Jean A., Rosenblum, Lynne S., Kenyon, Angela, Heim, Ruth A., Eisenberg, Marcia, Letovsky, Stanley, Okamoto, Patricia M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490669/
https://www.ncbi.nlm.nih.gov/pubmed/32929119
http://dx.doi.org/10.1038/s41598-020-71471-3

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