Kathie A. Mihindukulasuriya

VICAST: An Integrated Toolkit for Viral Genome Annotation Curation and Low-Frequency Variant Analysis in Passage Studies

VICAST is a toolkit for viral genome annotation and low-frequency variant analysis in passage studies, offering improved speed and accuracy compared to existing tools.

Dengue Virus Surveillance in Nepal Yields the First On-Site Whole Genome Sequences of Isolates from the 2022 Outbreak

The paper reports the first on-site whole genome sequencing of dengue virus isolates from Nepal's 2022 outbreak, identifying DENV1, 2, and 3 and linking them to sequences from India and China.

Hecatomb: An End-to-End Research Platform for Viral Metagenomics

Hecatomb is a bioinformatics platform for viral metagenomics that enables read and contig analysis, integrating reference databases and providing tools for virome discovery.

Genomic and multi-tissue proteomic integration for understanding the biology of disease and other complex traits

The paper integrates genomic and proteomic data across multiple tissues to identify protein quantitative loci (pQTL) and their implications for neurodegenerative diseases.

A single- nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.

The TMEM106B rs1990621 protective variant is also associated with increased neuronal proportion

The paper identifies a genetic variant in TMEM106B associated with increased neuronal proportion in neurodegenerative and cognitive normal cohorts, suggesting a role in neuronal protection.