Kristy S. Mualim

marApp: An R package and web portal to calculate mutations- and genetic diversity-area relationship for conservation

The paper introduces marApp, an R package and web portal for calculating mutations-area and genetic diversity-area relationships to aid conservation planning.

A consensus variant-to-function score to functionally prioritize variants for disease

This paper introduces a consensus variant-to-function score to prioritize disease-causing variants, showing improved performance in heritability enrichment and fine-mapping.

Large future genetic diversity losses are predicted even with habitat protection

The paper predicts significant future genetic diversity losses even with habitat protection using a spatio-temporal framework calibrated with genomic data from 29 species.

Cohesin-mediated 3D contacts tune enhancer-promoter regulation

This study uses CRUDO to show that cohesin and 3D contacts influence enhancer-promoter regulation, with distal enhancers showing stronger cohesin dependence.

An encyclopedia of enhancer-gene regulatory interactions in the human genome

ENCODE-rE2G, a classifier trained on K562 CRISPR perturbations, maps 13,455,443 enhancer-gene interactions across 352 biosamples, matching or exceeding prior models on CRISPR, eQTL, and GWAS benchmarks.

Genome-wide maps of enhancer regulation connect risk variants to disease genes

The paper uses the ABC Model to map enhancer-gene regulation across 131 cell types and tissues, linking GWAS variants to disease genes, particularly in IBD.