Nichole Ma

This study uses admixture mapping in the All of Us Research Program to identify local ancestry associations with complex traits, finding distinct patterns between African and Native American ancestry.

The paper introduces PIPSORT, a method to detect shared and ancestry-specific genetic signals in complex traits, and applies it to GWAS data from diverse populations.

The paper creates a deep population reference panel of tandem repeat variation using whole genome sequencing and develops a method to genotype over 1.7 million TR loci, identifying novel eQTL signals and a phased haplotype panel for imputation.

The paper identifies a quantitative trait locus on chromosome 13 associated with STR expansion propensity in mice, implicating Msh3 in genome-wide mutation patterns.

The paper uses linked-read whole-genome sequencing to identify DNA variants in BXD mice and maps them to phenotypes, enabling systems genetics and precision medicine.

This study identifies de novo tandem repeat mutations in ASD probands and shows they are more prevalent, larger, and evolutionarily deleterious compared to unaffected siblings.