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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Detalles Bibliográficos
Autores principales: Sprissler, Ryan, Perkins, Bryce, Johnstone, Laurel, Babiker, Hani M., Chalasani, Pavani, Lau, Branden, Hammer, Michael, Mahadevan, Daruka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352311/
https://www.ncbi.nlm.nih.gov/pubmed/32570879
http://dx.doi.org/10.3390/cancers12061618

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