The paper analyzes FFPE breast cancer specimens to assess recoverable molecular evolution features using computational methods despite sequencing artifacts.

bioRxiv · Oct 4, 2025 · PreprintEvolutionary Biology

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

Valentina Salsi, Matteo Chiara, Sara Pini, Paweł Kuś, Lucia Ruggiero, Silvia Bonanno, Carmelo Rodolico, Stefano Carlo Previtali, Maria Grazia D’Angelo, Lorenzo Maggi, Diego Lopergolo, Marek Kimmel, Filippo Maria Santorelli, Graziano Pesole, Rossella Ginevra Tupler

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine

The Origin of Bladder Cancer from Mucosal Field Effects

Jolanta E. Bondaruk, Roman Jaksik, Ziqiao Wang, David E. Cogdell, Sangkyou Lee, Yujie Chen, Khanh Ngoc Dinh, Tadeusz Majewski, Li Zhang, Shaolong Cao, Feng Tian, Hui Yao, Paweł Kuś, Huiqin Chen, John N. Weinstein, , Bogdan A. Czerniak

This study identifies molecular changes in bladder mucosa that initiate cancer, revealing inflammation's role and mutation patterns linked to early carcinogenesis.

iScience · Jun 7, 2022Peer-reviewedGenomics