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Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations

Whole exome sequencing (WES) of matched tumor-normal pairs in rare tumors has the potential to identify genome-wide mutations and copy number alterations (CNAs). We evaluated 27 rare cancer patients with tumor-normal matching by WES and tumor-only next generation sequencing (NGS) as a comparator. Ou...

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Detalhes bibliográficos
Publicado no:Cancers (Basel)
Main Authors: Sprissler, Ryan, Perkins, Bryce, Johnstone, Laurel, Babiker, Hani M., Chalasani, Pavani, Lau, Branden, Hammer, Michael, Mahadevan, Daruka
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7352311/
https://ncbi.nlm.nih.gov/pubmed/32570879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers12061618
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