William Majoros

Preprint · March 31, 2026 Identifying genetic variants in noncoding DNA that impact gene expression and thereby contribute to disease risk remains a difficult but important challenge in genomic medicine. Modern reporter assays such as STARR-seq and MPRA provide an efficient and eff ... Full text Link to item Cite

Identifying Inheritance Patterns of Allelic Imbalance, using Integrative Modeling and Bayesian Inference.

Preprint · March 31, 2026 Interpreting the effects of novel mutations on phenotypic traits remains challenging, particularly for cis -regulatory variants. For rare variants, individuals typically possess at most one affected copy of the causal allele, leading to allelic imbalance, ... Full text Link to item Cite

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

Preprint · May 17, 2025 Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause disease by altering ... Full text Link to item Cite