FUNGI: Fusion Gene Integration Toolset

Cervera Alejandra; Rausio Heidi; Kähkönen Tiia; Andersson Noora; Partel Gabriele; Rantanen Ville; Paciello Giulia; Ficarra Elisa; Hynninen Johanna; Hietanen Sakari; Carpén Olli; Lehtonen Rainer; Hautaniemi Sampsa; Huhtinen Kaisa
FUNGI: Fusion Gene Integration Toolset

Cervera Alejandra
Rausio Heidi
Kähkönen Tiia
Andersson Noora
Partel Gabriele
Rantanen Ville
Paciello Giulia
Ficarra Elisa
Hynninen Johanna
Hietanen Sakari
Carpén Olli
Lehtonen Rainer
Hautaniemi Sampsa
Huhtinen Kaisa
Katso/Avaa
Lataukset: 

Oxford University Press
doi:10.1093/bioinformatics/btab206
URI
https://academic.oup.com/bioinformatics/article/37/19/3353/6194566
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2022012711008
Tiivistelmä

Motivation: Fusion genes are both useful cancer biomarkers and important drug targets. Finding relevant fusion genes is challenging due to genomic instability resulting in a high number of passenger events. To reveal and prioritize relevant gene fusion events we have developed FUNGI (FUsionN Gene Identification toolset) that uses an ensemble of fusion detection algorithms with prioritization and visualization modules.

Results: We applied FUNGI to an ovarian cancer dataset of 107 tumor samples from 36 patients. Ten out of 11 detected and prioritized fusion genes were validated. Many of detected fusion genes affect the PI3K-AKT pathway with potential role in treatment resistance.

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