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TRGT is a tool for targeted genotyping of tandem repeats from PacBio HiFi data. In addition to the basic size genotyping, TRGT profiles sequence composition, mosaicism, and CpG methylation of each analyzed repeat and visualization of reads overlapping the repeats.

TRGT-denovo is a companion tool of TRGT (Tandem Repeat Genotyper) that further annotates TRGT genotyping using additional read-level information from samples, specifically for identifying de novo tandem repeat mutations in parent-child trios …

2024年1月2日 · Here we describe the Tandem Repeat Genotyping Tool (TRGT), a method for analysis of repeats in long-read data, as well as a companion method for Tandem Repeat Visualization (TRVZ).

In this tutorial, you will learn the basics of TRGT by analyzing a tiny example dataset included in this repository. Our example dataset consists of a reference genome (reference.fasta), a file with aligned reads (sample.bam), and the repeat definition file (repeat.bed).

2024年1月2日 · We developed a computational method — the Tandem Repeat Genotyping Tool (TRGT, pronounced ‘target’) — that characterizes TRs using PacBio HiFi long-read sequencing data. TRGT reports the...

Here we introduce the Tandem Repeat Genotyping Tool (TRGT) and an accompanying TR database. TRGT determines the consensus sequences and methylation levels of...

2024年7月16日 · We developed TRGT-denovo, a computational method designed to accurately identify all types of de novo TR mutations—including expansions, contractions, and compositional changes— within family trios. TRGT-denovo directly interrogates read evidence, allowing for the detection of subtle variations often overlooked in variant call format (VCF ...

2022年9月27日 · The Tandem Repeat Genotyping Tool (TRGT: pronounced as “target”) is intended to provide scientists with the ability to obtain a full characterization of the sequence and methylation status of TRs genome-wide.

PacBio has developed the Tandem repeat genotyping tool (TRGT) and Tandem repeat visualizer (TRVZ) as bioinformatics tools to accurately profile short tandem repeats, variable number tandem repeats, and macrosatellites. >1M tandem repeats in the human genome. >10 higher mutation rate than any other variant class.