Elaine Y. Chen

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification

The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.

Paternally-induced environmental programming of placenta development, offspring birth weight and health phenotypes in a mouse model

This study shows that paternal exposure to DDT before conception leads to smaller offspring, metabolic issues in males, and placental changes, suggesting environmental effects on intergenerational health.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.