Yeting Zhang

The paper evaluates a comprehensive pan-ethnic carrier screening panel across 282 monogenic diseases in 397,540 patients, showing it identifies 10-times more at-risk carrier couples than a two-gene panel and provides cost savings.

The paper identifies polymorphic mobile element insertions (pMEIs) as contributors to gene expression and alternative splicing variations across 48 human tissues using GTEx data.

The paper defines functional equivalence standards for genome sequencing pipelines to enable harmonized variant calling across diverse datasets with minimal batch effects.