Deletion variants calling in third-generation sequencing data based on a dual-attention mechanism.

ABSTRACT: Deletion is a crucial type of genomic structural variation and is associated with numerous genetic diseases. The advent of third-generation sequencing technology has facilitated the analysis of complex genomic structures and the elucidation of the mechanisms underlying phenotypic changes and disease onset due to genomic variants. Importantly, it has introduced innovative perspectives for deletion variants calling. Here we propose a method named Dual Attention Structural Variation (DASV) to analyze deletion structural variations in sequencing data. DASV converts gene alignment information into images and integrates them with genomic sequencing data through a dual attention mechanism. Subsequently, it employs a multi-scale network to precisely identify deletion regions. Compared with four wi

SUBMITTER: Wang H 

PROVIDER: S-EPMC11162298 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature