Juana G. Manuel

The paper develops MoDIFI, a Bayesian framework to prioritize cell lines and regulatory regions for testing noncoding variants associated with neurodevelopmental disorders.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper generates a mouse model with a deletion in an enhancer of EBF3, showing reduced Ebf3 expression and sex-specific behavioral and phenotypic differences.

The paper assesses clustering of missense variants in neurodevelopmental disorders and cancer, identifying proteins with significant variation patterns in each condition.

The paper tests the PacBio Revio sequencer by generating high-coverage long-read sequencing data for a mouse neuronal cell line and evaluates its performance in variant detection and genome assembly.