Optical Mapping Technology Sequence Mapping Visualization Tool

Abstract

The diagnostic process for the identification of diseases associated with large structural variants via optical genome mapping is conditional upon the rigorous comparison of genomic data. An analytical framework in the form of a web application is established, through which the streamlined analysis of alternative sequence mappings is facilitated by a high-level graph and also the in-depth inspection of specific genomic regions is supported by a genomic browser. A high-performance technology stack is utilised, with high-speed I/O being provided by a Rust-based backend and optimised reactivity being achieved through the use of a Svelte frontend. The management of large record sets is enabled through the incorporation of server-side paging and lazy loading, while system stability is maintained. A robust environment for the navigation, filtering, and interpretation of complex sequence data derived from experiments is thereby provided.