GGTyper: genotyping complex structural variants using short-read sequencing data.

ABSTRACT:

Motivation

Complex structural variants (SVs) are genomic rearrangements that involve multiple segments of DNA. They contribute to human diversity and have been shown to cause Mendelian disease. Nevertheless, our abilities to analyse complex SVs are very limited. As opposed to deletions and other canonical types of SVs, there are no established tools that have explicitly been designed for analysing complex SVs.

Results

Here, we describe a new computational approach that we specifically designed for genotyping complex SVs in short-read sequenced genomes. Given a variant description, our approach computes genotype-specific probability distributions for observing aligned read pairs with a wide range of properties. Subsequently, these distributions can be used to efficiently dete

SUBMITTER: Mirus T 

PROVIDER: S-EPMC11373317 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature