Advancing the detection of short tandem repeats in health and disease

Abstract

Short tandem repeats (STRs) are repetitive DNA sequences composed of repeat units with 2–6 base pairs in length. STRs make up around 3% of the human genome and have higher mutation rate than single nucleotide variants. Mutations in STRs loci have been linked to around 60 genetic disorders known today, the majority of them being neurological. Genotyping STRs has been difficult due to technical limitations but advances in DNA sequencing methods and the emergence of bioinformatic analysis tools have led to the discoveries of many new disease-causing loci. In this thesis, we focused on exploring different methods of STR analysis, their performance on high-throughput sequencing data and improving..