Claudia Catalanotti

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

The paper combines single cell DNA-Seq and RNA-Seq in gastric cancer to reveal subclonal genomic instability and gene expression patterns, showing evidence of tumor evolution.

The paper uses single-cell sequencing of genomic DNA to resolve sub-clonal heterogeneity in the COLO829 cell line, identifying four major sub-clones and explaining conflicting bulk sequencing results.

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.