Joe Chan

This study uses long-read sequencing to analyze haplotypes and CAA interruptions in ATXN2 CAG repeats, finding ethnicity-specific and ALS-specific associations.

SCOTCH improves isoform-level gene expression characterization using long-read single-cell RNA sequencing by refining sub-exon boundaries and reducing false positives.

The paper identifies novel oncogenic gene fusions in fusion-negative gliomas using long-read sequencing and functional validation in Drosophila.

This study compares two RNA modification detection models, Dorado and m6Anet, using RNA004 sequencing data, finding Dorado has higher recall but both have high false discovery rates for m6A and pseudouridine.