TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutations.

ABSTRACT:

Motivation

Identifying de novo tandem repeat (TR) mutations on a genome-wide scale is essential for understanding genetic variability and its implications in rare diseases. While PacBio HiFi sequencing data enhances the accessibility of the genome's TR regions for genotyping, simple de novo calling strategies often generate an excess of likely false positives, which can obscure true positive findings, particularly as the number of surveyed genomic regions increases.

Results

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 v

SUBMITTER: Mokveld T 

PROVIDER: S-EPMC11275785 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature