Julia di Iulio

The paper identifies HBV host factors using CRISPR screens and human liver chimeric mice, finding that EXOC1 is antiviral and ZCCHC14 is proviral.

This study evaluates the impact of sequencing technologies and bioinformatic protocols on SARS-CoV-2 variant calling and introduces standardized parameters to improve pipeline consistency.

The paper shows Xrn1, a decay factor, modulates RNA polymerase II processivity in yeast genes, affecting transcription initiation, elongation, and termination.

The paper uses human genetic data to analyze 3D protein structures and identifies intolerant sites that correlate with functional and drug target properties.

The paper presents a tool that uses search engines and natural language processing to access and summarize clinical variant information from multiple genomic resources.

The paper develops a model to identify essential regulatory elements in the human genome using machine learning and validates it with functional screens.

The paper analyzes genetic diversity across 11,257 human genomes to identify context-dependent conserved regions and their association with disease variants.

This study sequences 10,545 human genomes at 30-40x coverage, identifying 150 million variants and showing 84% of the genome can be confidently sequenced, with implications for clinical use.