Sumaiya Nazeen

NERINE tests gene network hypotheses with rare variant associations, identifying a subnetwork linked to Parkinson's disease.

The paper estimates mutation rates and variant effects using 700k exomes to identify genes with mutational hotspots and improve variant prioritization for genetic diagnostics.

The paper introduces scJLIM, a cluster-free method for single-cell colocalization testing, improving power to link GWAS loci with gene expression changes in specific cell types.

The paper identifies a shared genetic risk module involving PSEN2 and actin regulation across alpha-synucleinopathies, linking them to Alzheimer's disease mechanisms.

The paper investigates the link between genetic associations and regulatory function, finding limited evidence that baseline gene expression explains GWAS associations.

The paper identifies rare variants in the complement system associated with severe sepsis with coagulopathy using pathway-based analysis of whole exome sequencing data.

Carnelian provides an alignment-free method for functional binning and abundance estimation of metagenomic reads, revealing functional dysbiosis in T2D and early-stage PD.