Tatiana Cajuso

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

The paper removes genetic effects from plasma proteins to enhance their utility as disease biomarkers, showing improved associations with diseases and environmental factors.

This study evaluates if weight loss from a dietary intervention varies by genetic predisposition to higher BMI, finding no significant interaction between polygenic scores and intervention effectiveness.

This study investigates genetic factors influencing weight loss from GLP1-RA and bariatric surgery in 10,960 individuals across 9 biobanks, finding no strong genetic associations with GLP1-RA effectiveness but a modest link between BMI polygenic scores and reduced bariatric surgery weight loss.

This study identifies retrotransposon insertions in colorectal tumors, linking them to cancer initiation and poor patient survival.

BasePlayer is a software tool for analyzing large-scale NGS data, enabling variant analysis, visualization, and integration of genomic data.