Logo image
REXTAL: Regional Extension of Assemblies Using Linked-Reads
Conference proceeding   Open access   Peer reviewed

REXTAL: Regional Extension of Assemblies Using Linked-Reads

Tunazzina Islam, Desh Ranjan, Eleanor Young, Ming Xiao, Mohammad Zubair and Harold Riethman
BIOINFORMATICS RESEARCH AND APPLICATIONS, ISBRA 2018, v 10847, pp 63-78
01 Jan 2018
PMID: 32016171
url
https://europepmc.org/articles/pmc6996091View
Accepted (AM)Open Access (License Unspecified) Open

Abstract

Computer Science Computer Science, Information Systems Life Sciences & Biomedicine Mathematical & Computational Biology Science & Technology Technology
It is currently impossible to get complete de novo assembly of segmentally duplicated genome regions using genome-wide short-read datasets. Here, we devise a new computational method called Regional Extension of Assemblies Using Linked-Reads (REXTAL) for improved region-specific assembly of segmental duplication-containing DNA, leveraging genomic short-read datasets generated from large DNA molecules partitioned and barcoded using the Gel Bead in Emulsion (GEM) microfluidic method [1]. We show that using REXTAL, it is possible to extend assembly of single-copy diploid DNA into adjacent, otherwise inaccessible subtelomere segmental duplication regions and other subtelomeric gap regions. Moreover, REXTAL is computationally more efficient for the directed assembly of such regions from multiple genomes (e.g., for the comparison of structural variation) than genome-wide assembly approaches.

Metrics

17 Record Views
2 citations in Scopus

Details

UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

InCites Highlights

Data related to this publication, from InCites Benchmarking & Analytics tool:

Collaboration types
Domestic collaboration
Web of Science research areas
Computer Science, Information Systems
Mathematical & Computational Biology
Logo image