Andreas Halman

Toblerone detects exon deletions in RNA-seq data, specifically applied to IKZF1 in B-ALL samples, identifying deletions associated with poor prognosis.

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

STRipy simplifies STR genotyping in HTS data by providing a user-friendly tool that targets all known disease-causing STRs and handles long alleles.

This study evaluates four short tandem repeats genotyping tools on whole exome sequencing data, finding varying performance based on repeat type and filtering parameters.

STRetch detects pathogenic short tandem repeat expansions in whole genome sequencing data, revealing novel disease-causing STRs with low false discovery rate.