Tanya N. Phung

This study evaluates best practices for improving variant calling on human sex chromosomes by using sex chromosome-informed alignment and accurate ploidy parameters.

This study identifies 1,294 genomic regions and 961 effector genes associated with externalizing disorders, revealing neural mechanisms and polygenic predictors of variance in these conditions.

The paper links GWAS-associated genes to single-cell RNA-seq data to identify cell types associated with 14 brain phenotypes, confirming and discovering new cell-type-disease associations.

The paper identifies sex differences in gene expression in placenta at different pregnancy stages and shows these differences are conserved in adult tissues.

The paper examines X chromosome inactivation in the human placenta and finds it is patchy, differing from the mosaic pattern observed in adult tissues.

The paper develops CNEP to predict constrained non-exonic bases using epigenomic and transcription factor data, and introduces CSS-CNEP to improve prediction for underperforming bases.

This paper identifies and corrects technical biases on sex chromosomes in sequencing data using a new tool called XYalign.