Dimitris V. Vavoulis

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.

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data

This paper introduces a statistical method to track clonal dynamics in cancer using longitudinal sequencing data, showing improved model performance with temporal information.

Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the antiepileptic drug levetiracetam

This study uses whole genome sequencing to identify genomic variants associated with clinical response to levetiracetam in patients with epilepsy, finding common and rare variants in genes related to synaptic function and neurotransmission.

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

This paper validates a non-invasive prenatal test for detecting monogenic autosomal recessive disorders using cfDNA sequencing and probabilistic modeling, achieving high sensitivity and specificity in clinical samples.

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.