Helene Marie-Pierre Dreau

Multimodal cell-free DNA whole-genome analysis combined with TET-Assisted Pyridine Borane Sequencing is sensitive and reveals specific cancer signals

This paper develops a bioinformatics pipeline combining TAPS and whole-genome sequencing to detect ctDNA in cancer patients, achieving 85.2% sensitivity with 100% specificity.

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

This study evaluates the ability of long-read sequencing to detect somatic variants in a lymphoma patient, highlighting the need for specialized tools and the advantages of long reads for structural variants.

Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy

This study identifies bi-allelic MCM10 mutations causing telomere shortening, immune dysfunction, and cardiomyopathy by impairing DNA replication and telomerase activity.

Differential genomic and transcriptomic events associated with high-grade transformation of Chronic Lymphocytic Leukemia

The paper identifies genomic and transcriptomic changes in CLL transforming to RS, finding pathway mutations and non-coding mutations in PAX5 enhancers associated with transformation.