1. LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.
- Author
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Ziaei Jam, Helyaneh, Zook, Justin, Javadzadeh, Sara, Park, Jonghun, Sehgal, Aarushi, and Gymrek, Melissa
- Subjects
Long reads ,Microsatellites ,Tandem repeats ,Humans ,Tandem Repeat Sequences ,Genome ,Human ,Genetic Variation ,Software ,Sequence Analysis ,DNA ,High-Throughput Nucleotide Sequencing ,Nanopore Sequencing - Abstract
Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve tandem repeat analysis, especially for long or complex repeats. Here, we introduce LongTR, which accurately genotypes tandem repeats from high-fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https://github.com/gymrek-lab/longtr and https://zenodo.org/doi/10.5281/zenodo.11403979 .
- Published
- 2024