Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology
Chelsea Mayoh, Paulette Barahona, Angela Lin, Lujing Cui, Pamela Ajuyah, Ann Altekoester, Loretta M. S. Lau, Dong-Anh Khuong-Quang, Patricia A. Sullivan, Akanksha Senapati, Sumanth Nagabushan, Ashleigh Sullivan, Natacha Omer, Andrew S. Moore, Wayne Nicholls, , Mark J. Cowley
This paper shows RNA-seq can detect most mutations found by WGS in pediatric tumors and provides additional insights into their pathogenicity.
bioRxiv · Jun 25, 2025 · PreprintGenomics