Chromonomer: a tool set for repairing and enhancing assembled genomes through integration of genetic maps and conserved synteny

J Catchen, A Amores, S Bassham - G3: Genes, Genomes …, 2020 - academic.oup.com
The pace of the sequencing and computational assembly of novel reference genomes is
accelerating. Though DNA sequencing technologies and assembly software tools continue …

A chromosome-level genome assembly of the Korean crossbred pig Nanchukmacdon (Sus scrofa)

D Kwon, N Park, S Wy, D Lee, HH Chai, IC Cho, J Lee… - Scientific Data, 2023 - nature.com
As plentiful high-quality genome assemblies have been accumulated, reference-guided
genome assembly can be a good approach to reconstruct a high-quality assembly. Here, we …

Challenges in large-scale bioinformatics projects

S Morrison-Smith, C Boucher, A Sarcevic… - Humanities and Social …, 2022 - nature.com
Biological and biomedical research is increasingly conducted in large, interdisciplinary
collaborations to address problems with significant societal impact, such as reducing …

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 …

Applications of optical genome mapping in next-generation cytogenetics and genomics

WA Khan, DM Toledo - Advances in …, 2021 - advancesinmolecularpathology.com
Historically, short-read sequencing has been the preferred method for sequencing targeted
gene panels, exomes, and genomes in the clinical laboratory. However, other technologies …

Aligning optical maps to de Bruijn graphs

K Mukherjee, B Alipanahi, T Kahveci, L Salmela… - …, 2019 - academic.oup.com
Motivation Optical maps are high-resolution restriction maps (Rmaps) that give a unique
numeric representation to a genome. Used in concert with sequence reads, they provide a …

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 …

Whole-genome optical mapping: Improving assembly of Macrophomina phaseolina MS6 through spanning of twelve blunt end chromosomes by obviating all errors …

QMM Hossen, MS Islam, EM Emdad… - African Journal of …, 2019 - academicjournals.org
Deciphering genetic information through next-generation sequencing (NGS) is considered
as the basic platform to unveil in details of an organism. However, as it produces short reads …

Fast genomic optical map assembly algorithm using binary representation

P Stawczyk, R Nowak - arXiv preprint arXiv:2210.06865, 2022 - arxiv.org
Reducing the cost of sequencing genomes provided by next-generation sequencing
technologies has greatly increased the number of genomic projects. As a result, there is a …

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 …