[HTML][HTML] Advances in optical mapping for genomic research

Y Yuan, CYL Chung, TF Chan - Computational and Structural …, 2020 - Elsevier
Recent advances in optical mapping have allowed the construction of improved genome
assemblies with greater contiguity. Optical mapping also enables genome comparison and …

AmpliconReconstructor integrates NGS and optical mapping to resolve the complex structures of focal amplifications

J Luebeck, C Coruh, SR Dehkordi, JT Lange… - Nature …, 2020 - nature.com
Oncogene amplification, a major driver of cancer pathogenicity, is often mediated through
focal amplification of genomic segments. Recent results implicate extrachromosomal DNA …

MOMS: A pipeline for scaffolding using multi‐optical maps

J Xu, B Liao, S Guo, S Xiao, X Liao… - Molecular Ecology …, 2023 - Wiley Online Library
Here, we report a new multi‐optical maps scaffolder (MOMS) aiming at utilizing
complementary information among optical maps labelled by distinct enzymes. This pipeline …

Error correcting optical mapping data

K Mukherjee, D Washimkar, MD Muggli… - …, 2018 - academic.oup.com
Optical mapping is a unique system that is capable of producing high-resolution, high-
throughput genomic map data that gives information about the structure of a genome …

Fast and accurate correction of optical mapping data via spaced seeds

L Salmela, K Mukherjee, SJ Puglisi, MD Muggli… - …, 2020 - academic.oup.com
Motivation Optical mapping data is used in many core genomics applications, including
structural variation detection, scaffolding assembled contigs and mis-assembly detection …

Filling gaps of genome scaffolds via probabilistic searching optical maps against assembly graph

B Huang, G Wei, B Wang, F Ju, Y Zhong, Z Shi… - BMC …, 2021 - Springer
Background Optical maps record locations of specific enzyme recognition sites within long
genome fragments. This long-distance information enables aligning genome assembly …

Fast and efficient Rmap assembly using the Bi-labelled de Bruijn graph

K Mukherjee, M Rossi, L Salmela… - Algorithms for Molecular …, 2021 - Springer
Genome wide optical maps are high resolution restriction maps that give a unique numeric
representation to a genome. They are produced by assembling hundreds of thousands of …

OptiDiff: structural variation detection from single optical mapping reads

M Akdel, D de Ridder - BioRxiv, 2022 - biorxiv.org
Detecting structural variation (SV) in eukaryotic genomes is of broad interest due to its often
dramatic phenotypic effects, but remains a major, costly challenge based on DNA …

AmpliconReconstructor: Integrated analysis of NGS and optical mapping resolves the complex structures of focal amplifications in cancer

J Luebeck, C Coruh, SR Dehkordi, JT Lange… - bioRxiv, 2020 - biorxiv.org
Oncogene amplification, a major driver of cancer pathogenicity, is often mediated through
focal amplification of genomic segments. Recent results implicate extrachromosomal DNA …

Space-efficient indexing of spaced seeds for accurate overlap computation of raw optical mapping data

R Walve, SJ Puglisi, L Salmela - IEEE/ACM Transactions on …, 2021 - ieeexplore.ieee.org
A key problem in processing raw optical mapping data (Rmaps) is finding Rmaps originating
from the same genomic region. These sets of related Rmaps can be used to correct errors in …