Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach.

Marzena WojtaszewskaRafał StępieńAlicja Woźna Maciej Piernik Paweł Sztromwasser Maciej Dąbrowski Michał Gniot Sławomir Szymański Maciej W Socha Piotr Kasprzak Rafał Adam Matkowski Pawel Zawadzki

Published in: Molecular diagnosis & therapy (2021)

We provide evidence that the HER2 status may be reliably determined by whole genome sequencing and is applicable across different laboratory protocols and pipelines. We suggest using the ploidy-corrected copy number for diagnostic purposes.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
electronic health record
big data
gene expression