Uma Sunderam

Wnt stimulation and inhibition in the development and phenotype of patient-derived gallbladder organoids

This study compares the effects of Wnt activation and inhibition on gallbladder organoid development, phenotype, and drug response using patient-derived tissues.

Insights into gallbladder cancer pathogenesis from a living organoid gallbladder cholangiocyte biorepository

The paper develops and characterizes patient-derived gallbladder organoids to study gallbladder cancer pathogenesis, finding that XGC samples cluster with malignant subtypes and show neoplastic changes through chronic inflammation.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

Identifying Factors Important for Conservation at Sites of Synonymous Variations

The paper uses machine learning to identify factors influencing conservation at synonymous variant sites, finding that non-allele-dependent features significantly impact conservation scores.

Perturbation robustness analyses reveal important parameters in variant interpretation pipelines

The paper evaluates how parameter choices affect variant interpretation pipelines by systematically perturbing parameters and shows that certain choices significantly impact sensitivity and specificity.

DNA from dried blood spots yields high quality sequences for exome analysis

This study evaluates the quality of exome sequencing from DNA extracted from dried blood spots (DBS) and finds it comparable to whole blood, with similar variant calling accuracy.