LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.

doi:10.1186/s13059-024-03319-2

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Article

LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.

Genome biology - 4 Jul 2024

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

Abstract excerpt

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...

Topics

Humans
Tandem Repeat Sequences
Genome, Human
Genetic Variation
Software
Sequence Analysis, DNA
High-Throughput Nucleotide Sequencing
Nanopore Sequencing

Source

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Identifiers

PMID: 38965568
DOI: 10.1186/s13059-024-03319-2
PMCID: PMC11229021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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