Carolyn A. Paisie

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

The paper identifies five therapeutic targets for Alzheimer's disease by integrating phenotypic and proteomic screening in murine microglial cells.

Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.

The paper develops a new method to detect complex structural variants in large genomic regions, revealing previously undetectable structures and improving breakpoint accuracy.

The paper compares genetic variation in two outbred mouse stocks, showing J:DO has higher genetic diversity and more damaging variants, while J:ARC is more suitable for general research due to lower variability.

This paper develops machine learning models to predict the primary site of origin and molecular subtype of metastatic cancers using gene expression data from TCGA, achieving high accuracy across multiple cancer types.