O. Isaac Garcia-Salinas

The paper identifies 1,015 high-confidence postzygotic mutations in 12,015 parent-offspring trios, showing they contribute to clinical phenotypes and can be detected from standard sequencing data.

This study analyzes acral melanoma genomes and transcriptomes from Mexican patients, finding ancestry-related mutation patterns and survival differences.

This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

VCF/Plotein is a web application that enables secure and interactive viewing and filtering of exome sequencing data for researchers and medical professionals.