FUNGI: Fusion Gene Integration Toolset

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

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