USAT: a bioinformatic toolkit to facilitate interpretation and comparative visualization of tandem repeat sequences

Date

2022-11-20

Authors

Wang, Xuewen
Budowle, Bruce
Ge, Jianye

ORCID

0000-0001-8724-075X (Ge, Jianye)

Journal Title

Journal ISSN

Volume Title

Publisher

BioMed Central Ltd.

Abstract

BACKGROUND: Tandem repeats (TR), highly variable genomic variants, are widely used in individual identification, disease diagnostics, and evolutionary studies. The recent advances in sequencing technologies and bioinformatic tools facilitate calling TR haplotypes genome widely. Both length-based and sequence-based TR alleles are used in different applications. However, sequence-based TR alleles could provide the highest precision in characterizing TR haplotypes. The need to identify the differences at the single nucleotide level between or among TR haplotypes with an easy-use bioinformatic tool is essential. RESULTS: In this study, we developed a Universal STR Allele Toolkit (USAT) for TR haplotype analysis, which takes TR haplotype output from existing tools to perform allele size conversion, sequence comparison of haplotypes, figure plotting, comparison for allele distribution, and interactive visualization. An exemplary application of USAT for analysis of the CODIS core STR loci for DNA forensics with benchmarking human individuals demonstrated the capabilities of USAT. USAT has user-friendly graphic interfaces and runs fast in major computing operating systems with parallel computing enabled. CONCLUSION: USAT is a user-friendly bioinformatics software for interpretation, visualization, and comparisons of TRs.

Description

Citation

Wang, X., Budowle, B., & Ge, J. (2022). USAT: a bioinformatic toolkit to facilitate interpretation and comparative visualization of tandem repeat sequences. BMC bioinformatics, 23(1), 497. https://doi.org/10.1186/s12859-022-05021-1

Rights

© The Author(s) 2022.

License

Attribution 4.0 International (CC BY 4.0)