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PacBio has announced a new method for comprehensive genome-wide tandem repeat analysis

 Last Update: 2022-09-30
 Source: Internet
 Author: User

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PacBio (NASDAQ: PACB), a leading developer of high-quality, high-precision sequencing solutions, today announced a new computational analysis method that analyzes more than 1 million tandem repeats (TRs) in the human genome using PacBio's native long-read HiFi sequencing data
.

Tandem repeats are sequences of genes that repeat genes that can grow
in length from parent to child.

Michael Eberle, vice president of computational biology at PacBio, said: "We developed TRGT to describe genetic and epigenetic variants that are repeated in tandem with one of the most difficult variants
.

The purpose of TRGT is to enable researchers to characterize the sequence composition and structure, repeat length, and CpG methylation of each analyzed repeat allele and flank sequence in the genome
.

Stephan Zuchner, MD, professor and chief genomics officer at the University of Miami Miller School of Medicine, said: "The TRGT approach is a major improvement on the replication extended analysis, and it is helping us to discover new and potentially important variants in the samples of individuals with genetic diseases that may be disease-related
.

To improve usability, TRGT also comes with a companion tool, TRVZ, for visualizing read stack and methylation data
for each repeat allele and flanking sequence.

TRGT and TRVZ are now available on GitHub

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