Author

J. Perera-Bel

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Review Open access Sep 2026

Somatic likelihood tiering: an interpretable post-calling triage protocol for tumor-only whole-exome variant review

Abstract Tumor-only whole-exome sequencing (WES) is used when matched normal tissue is unavailable, but one sample can produce thousands of variants. Somatic likelihood tiering (SLT) is an interpretable post-calling protocol that ranks Mutect2 calls into four review-priority tiers using population-frequency, germline-q...

Konrad Stawiski, S. Kamran, J. Perera-Bel et al. · Briefings in Bioinformatics · 0 citations

Open access Aug 2026

RERE and the Mediator complex cooperate with EWSR1::FLI1 in the reprogramming of Translation and Alternative Splicing, the latter being a therapeutically targetable vulnerability in Ewing sarcoma

The identification of the splicing factor RBM39 as a vulnerability in ES is supported by the extraordinary sensitivity of these tumors to monotherapy with RBM39 degrader indisulam, highlighting the potential of this approach as a novel and promising therapeutic strategy for Ewing sarcoma.

Irene Cuervas, Sophie Bonnal, Evelyn Andrades et al. · bioRxiv · 0 citations