Etienne Sollier

The paper develops a hierarchical classification framework combining epigenetic and genetic data with machine learning to improve diagnosis and risk stratification in hematologic malignancies.

This study shows that loss of the Y chromosome in lung adenocarcinoma causes epigenetic and transcriptomic changes that increase lineage plasticity and poor clinical outcomes.

Pyjacker detects enhancer hijacking in AML, identifying MNX1 activation via 7q deletion as a novel oncogenic mechanism.

The paper identifies del(5q) AML as an epigenetically distinct subgroup driven by KDM3B haploinsufficiency, linked to DNA hypermethylation and H3K9me1/2 dysregulation.

This study shows that SRSF2 mutations cause DNA damage and cell cycle arrest, highlighting its role in transcription regulation during cell division.

Figeno generates publication-quality genomic figures with support for multi-region views, long reads, and epigenomic data.

The paper shows MNX1 overexpression in t(7;12)(q36;p13) AML is due to enhancer hijacking, not oncofusion, and is common in pediatric cases.

This paper introduces COMPASS, a method to jointly reconstruct mutation and copy number phylogenies from single-cell amplicon sequencing data, showing it detects both clonal and subclonal alterations in leukemia patients.