Michael Gonzalez

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

The paper curates clinically relevant transcripts for 109 hearing loss-associated genes to improve variant interpretation by classifying exons based on expression, variant frequency, and sequencing quality.

ExomeSlicer is a web-based resource that identifies technically challenging regions in exome data, aiding in the development and validation of exome-based clinical panels.