Leming Shi

An East Asian blood eQTL meta-analysis highlights ancestry-matched eQTL resources for complex-trait genetics

Abstract Expression quantitative trait loci (eQTLs) link genetic variation to gene regulation and complex traits, yet population-scale blood eQTL resources remain limited in East Asian populations. We mapped cis-eQTLs in 1,005 Chinese individuals and meta-analysed them with a Jap...

Benchmarking RNA-seq with the Quartet and MAQC reference materials to establish best practices for accurate alternative splicing analysis

Previous limited characterization of short-read RNA-seq (srRNA-seq) accuracy in alternative splicing (AS) analysis due to methodological diversity and lack of reference standards, has left unclear how to achieve optimal performance—an issue increasingly critical with the rise of...