Javier Santoyo‐López

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

This study shows that genetic background and environmental factors determine the trajectory of cancer evolution in mice, with distinct mutational paths despite similar final tumor states.

The paper presents a long-read sequencing workflow for ecological genomics education, enabling students to assemble and identify plant genomes within two weeks.

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.