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.
REXTAL: Regional Extension of Assemblies Using Linked-Reads
Creators
Tunazzina Islam - Old Dominion University
Desh Ranjan - Old Dominion University
Eleanor Young - Drexel University
Ming Xiao - Drexel University
Mohammad Zubair - Old Dominion University
Harold Riethman - Old Dominion University
Contributors
F Zhang (Editor)
Z Cai (Editor)
P Skums (Editor)
S Zhang (Editor)
Publication Details
BIOINFORMATICS RESEARCH AND APPLICATIONS, ISBRA 2018, v 10847, pp 63-78
Series
Lecture Notes in Bioinformatics
Publisher
Springer Nature
Number of pages
16
Grant note
R21CA177395 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
R21CA177395 / NATIONAL CANCER INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI)
Old Dominion University
Resource Type
Conference proceeding
Language
English
Academic Unit
School of Biomedical Engineering, Science, and Health Systems
Web of Science ID
WOS:000469799100006
Scopus ID
2-s2.0-85050344868
Other Identifier
991019167926904721
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