Cindy Im

The paper introduces pt-TWAS, a framework that identifies disease genes along cell developmental paths by modeling gene expression as a continuous function of pseudotime, improving resolution over discrete cell-type analyses.

This study identifies novel diabetes risk loci in childhood cancer survivors using whole-genome sequencing and shows higher risk for African ancestry survivors with risk alleles.

This study identifies 13 rare haplotypes associated with increased breast cancer risk using genome-wide haplotype-BCa association analysis in UK Biobank data, with partial generalizability in an independent cohort.

The paper identifies rare risk haplotypes associated with breast cancer that may misrepresent risk through common alleles, challenging the polygenic model.

The paper identifies a novel genetic locus associated with fracture risk in childhood cancer survivors, with effects specific to sex and therapy, using genome-wide association studies.

The paper evaluates the generalizability of GWAS findings in childhood cancer survivors and finds limited replication of meta-GWAS hits in these populations.