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

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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Bibliographic Details
Main Authors: Ryan Sprissler, Bryce Perkins, Laurel Johnstone, Hani M Babiker, Pavani Chalasani, Branden Lau, Michael Hammer, Daruka Mahadevan
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Cancers
Subjects:
rare tumors
whole exome sequencing
tumor-germline matched sequencing
inherited variants
copy number alteration (CNA)
double hits
Online Access:https://www.mdpi.com/2072-6694/12/6/1618

Internet

https://www.mdpi.com/2072-6694/12/6/1618

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