Mallory Ryan

This study shows that ultraconserved poison exons regulate mitotic splicing fidelity and stem cell viability by controlling SR protein levels and splicing networks.

The paper evaluates CNVs in a hiPSC line and concludes that their potential impact on neurological disease modelling is outweighed by the line's benefits.

JAX-CNV is a whole genome sequencing-based algorithm for copy number variant detection, achieving 100% recall and 4% false discovery rate in clinical validation.

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study quantifies intratumoral subclone dynamics in breast cancer xenografts, revealing a treatable ecology where subclone ratios predict treatment response.