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PUBLICATIONS

Genome-wide profiling of genetic variation at tandem repeat from long reads

Published

Author(s)

Helyaneh Jam, Justin Zook, Sara Javadzadeh, Jonghun Park, Aarushi Sehgal, Melissa Gymrek

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 TR 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.
Citation
Genome Biology
Volume
25
Issue
176
Pub Type
Journals

Download Paper

https://doi.org/10.1186/s13059-024-03319-2
Local Download

Keywords

tandem repeats, variant calling, benchmark
Precision medicine, Genomics, Bioscience and Bioinformatics

Citation

Jam, H. , Zook, J. , Javadzadeh, S. , Park, J. , Sehgal, A. and Gymrek, M. (2024), Genome-wide profiling of genetic variation at tandem repeat from long reads, Genome Biology, [online], https://doi.org/10.1186/s13059-024-03319-2, https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=957348 (Accessed November 18, 2024)

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Created July 4, 2024, Updated September 27, 2024