Ali Saadat

The paper integrates multi-omics data from pediatric sepsis patients to identify a reproducible inflammatory host-response axis associated with disease severity.

The paper introduces a framework for defining and reusing qualifying variants (QVs) in genomic analysis to improve transparency, reproducibility, and interoperability across pipelines.

The paper introduces a Bayesian model to quantify the sufficiency of genomic variant evidence for Mendelian diseases, enabling consistent interpretation across institutions.

PanelAppRex aggregates and standardizes disease gene panels to enable efficient search and integration into bioinformatic workflows, recovering causal genes in all benchmarked cases.

This paper evaluates zygosity-aware DNA language models for ancestry and gene expression prediction, showing improved performance with diploid representations.

This paper introduces a statistical framework to quantify prior probabilities of disease-causing variants in inborn errors of immunity, revealing top genetic contributors and validating results in national cohorts.

This study shows that transformer models struggle to capture DNA's functional complexity, suggesting inherent limitations that scale cannot overcome.