Cancer cell line variant knowledge resource for facilitated cell line identification

Rahel Paloots, Michael Baudis

ESHG Vienna 2022

One of the known features of cancer is the instability of its genome. Vast changes in the genome lead to duplications and deletions in the chromosome, that can be detected in most types of cancer. These chromosomal aberrations are also called copy number variants. Cancer cell lines are necessary tools for understanding the disease mechanisms as well as the development of new cancer treatments. However, they may not always be the best representation of their neoplasm of origin, due to cell line contamination and misidentification, as well as higher numbers of accumulated mutations in the cancer cell line genome.

The analysis and comparison of cancer cell line and their origin’s profiles provide information on how similar different instances of cancer and/or cancer cell lines are to each other. Here we build a cancer cell line variant resource for easier cell line identification and to enable finding the best representation for the cell line. This resource is open-source and uses the Beacon protocol for facilitated data sharing. To make this cell line variant knowledge resource complete we have also included cell line metadata and known single nucleotide variants to our database.

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