Nima Mousavi

GIFT enables high-accuracy genotyping in single cells, revealing mutation-dependent hematopoietic responses in MPN patients.

The paper extends SISTR to jointly estimate selection coefficients across STRs, showing variation in mutation and selection parameters and greater selective burden of de novo STR mutations compared to standing variation.

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.

TRTools provides a Python library and command-line tools for filtering, merging, and quality control of tandem repeat genotype files, with compatibility across TR genotypers.

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.

This paper introduces GangSTR, a tool for genome-wide profiling of tandem repeat expansions, showing it outperforms existing methods and identifies novel expansions in a healthy population.

The paper creates a reference haplotype panel for imputing STRs from SNP data, showing high concordance and increased power for STR association studies.