Design of Optimal Labeling Patterns for Optical Genome Mapping Via Information Theory

Overview

Journal Bioinformatics

Publisher Oxford University Press

Specialty Biology

Date 2023 Sep 27

PMID 37758248

Authors

Yevgeni Nogin

Daniella Bar-Lev

Dganit Hanania

Tahir Detinis Zur

Yuval Ebenstein

Eitan Yaakobi

Nir Weinberger

Yoav Shechtman

Affiliations

Soon will be listed here.

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 experimental OGM on human DNA and simulations on bacterial DNA. Our model predicts up to 10-fold improved accuracy by optimal choice of labeling patterns, which may guide future development of OGM biochemical labeling methods and significantly improve its accuracy and yield for applications such as epigenomic profiling and cultivation-free pathogen identification in clinical samples.

Availability And Implementation: https://github.com/yevgenin/PatternCode.

Citing Articles

OM2Seq: learning retrieval embeddings for optical genome mapping.

Nogin Y, Sapir D, Zur T, Weinberger N, Belinkov Y, Ebenstein Y Bioinform Adv. 2024; 4(1):vbae079.

PMID: 38915884 PMC: 11194751. DOI: 10.1093/bioadv/vbae079.

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