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Pacific Biosciences: Tandem Repeat Genotyping Tool

Sep 27, 2022

Pacific Biosciences has launched a new computational analysis method for profiling tandem repeats.

The tandem repeat genotyping tool (TRGT) provides full characterization of tandem repeats genome-wide, including composition, structure, repeat unit length, and CpG methylation for each repeat allele and flanking sequence. It can also identify sequence changes that are potentially associated with pathogenic expansions in diseases such as cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

TRGT comes with a companion tool, TRVZ, to visualize read pileups and methylation data for each repeat allele and flanking sequence.

TRGT and TRVZ are available via GitHub.

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