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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |