Elizabeth G. Plender

A high-resolution human pangenome structural variant resource for improved disease association

The paper constructs a high-resolution human pangenome structural variant resource, identifies disease-associated SVs, and demonstrates its utility in filtering variants from probands and associating SVs with traits in a large cohort.

Complex structural variation, phylogeny, and disease associations of the mucin pangenome

The paper characterizes mucin VNTR diversity using long-read genomes and identifies disease associations in cystic fibrosis patients.

Structural and genetic diversity in the secreted mucins, MUC5AC and MUC5B

This study characterizes structural and genetic diversity in MUC5AC and MUC5B using long-read sequencing, revealing haplotype variation and evolutionary patterns across human and nonhuman primate populations.

Locityper: targeted genotyping of complex polymorphic genes

Locityper improves variant calling for complex polymorphic genes using short and long-read sequencing, accurately genotyping 194 out of 256 challenging loci.

Integration of vascular progenitors into functional blood vessels represents a novel mechanism of vascular growth

The paper identifies a novel site of late vasculogenesis in zebrafish embryos that contributes to functional blood vessels after circulation is established.

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

The paper identifies eQTLs for ACE2 and TMPRSS2 in children's airway transcriptomes and links their expression to T2 inflammation and interferon responses, influencing SARS-CoV-2 infectivity.