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Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples

BACKGROUND: The use of a personalized haplotype-specific genome assembly, rather than an unrelated, mosaic genome like GRCh38, as a reference for detecting the full spectrum of somatic events from cancers has long been advocated but has never been explored in tumor-normal paired samples. Here, we pr...

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Detalles Bibliográficos
Autores principales: Xiao, Chunlin, Chen, Zhong, Chen, Wanqiu, Padilla, Cory, Colgan, Michael, Wu, Wenjun, Fang, Li-Tai, Liu, Tiantian, Yang, Yibin, Schneider, Valerie, Wang, Charles, Xiao, Wenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648002/
https://www.ncbi.nlm.nih.gov/pubmed/36352452
http://dx.doi.org/10.1186/s13059-022-02803-x