Ontology highlight
ABSTRACT:
SUBMITTER: Hsieh G
PROVIDER: S-EPMC5737606 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Hsieh Gillian G Bierman Rob R Szabo Linda L Lee Alex Gia AG Freeman Donald E DE Watson Nathaniel N Sweet-Cordero E Alejandro EA Salzman Julia J
Nucleic acids research 20170701 13
Gene fusions are known to play critical roles in tumor pathogenesis. Yet, sensitive and specific algorithms to detect gene fusions in cancer do not currently exist. In this paper, we present a new statistical algorithm, MACHETE (Mismatched Alignment CHimEra Tracking Engine), which achieves highly sensitive and specific detection of gene fusions from RNA-Seq data, including the highest Positive Predictive Value (PPV) compared to the current state-of-the-art, as assessed in simulated data. We show ...[more]