Valentina Nardi

Hi-C for genome-wide detection of enhancer-hijacking rearrangements in routine lymphoid cancer biopsies

This study uses FFPE-compatible Hi-C to detect enhancer-hijacking rearrangements in lymphoid cancers, identifying clinically relevant drivers missed by standard methods.

Acute promyelocytic leukemia with torque teno mini virus (TTMV)::RARA fusion: an approach to screening and diagnosis

The paper describes a clinicopathologic approach and tools for diagnosing APL with TTMV::RARA fusion using NGS assays, identifying four cases with poor treatment outcomes.

Outlier expression of isoforms by targeted RNA sequencing as clinical markers of genomic variants in B lymphoblastic leukemia and other tumor types

The paper identifies outlier RNA isoform expression as a method to detect clinically relevant genomic variants in B-ALL and other cancers with high sensitivity and specificity.

Allelic Complexity of KMT2A Partial Tandem Duplications in Acute Myeloid Leukemia and Myelodysplastic Syndromes

This study identifies secondary genetic events in KMT2A-PTD patients, showing their association with disease progression and higher RNA expression.

Pathway-based Rare Variant Burden Analysis Identifies a Role for the Complement System in an Extreme Phenotype of Sepsis with Coagulopathy

The paper identifies rare variants in the complement system associated with severe sepsis with coagulopathy using pathway-based analysis of whole exome sequencing data.