Design of optimal labeling patterns for optical genome mapping via information theory.

ABSTRACT:

Motivation

Optical genome mapping (OGM) is a technique that extracts partial genomic information from optically imaged and linearized DNA fragments containing fluorescently labeled short sequence patterns. This information can be used for various genomic analyses and applications, such as the detection of structural variations and copy-number variations, epigenomic profiling, and microbial species identification. Currently, the choice of labeled patterns is based on the available biochemical methods and is not necessarily optimized for the application.

Results

In this work, we develop a model of OGM based on information theory, which enables the design of optimal labeling patterns for specific applications and target organism genomes. We validated the model through experimen

SUBMITTER: Nogin Y 

PROVIDER: S-EPMC10563147 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature