Laura Kathleen Conlin

This paper develops a specific pipeline to detect balanced reciprocal translocations in genomic data and applies it across multiple cohorts to assess their prevalence and diagnostic impact.

The paper introduces GAVURD, a system to identify putative pathogenic non-coding variants in unresolved rare disease patients using trio whole genome sequencing and TAD data, and identifies six potentially causal variants in ten probands.

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

The paper develops a Bayesian method to detect balancing selection across different sequencing technologies and identifies novel genes under selection in complex genomic regions.

Phenoxome improves clinical exome variant prioritization by integrating phenotypic and genomic data, achieving high accuracy in identifying causative variants.