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Title: Comparative genome analysis using sample-specific string detection in accurate long reads
Abstract Motivation Comparative genome analysis of two or more whole-genome sequenced (WGS) samples is at the core of most applications in genomics. These include the discovery of genomic differences segregating in populations, case-control analysis in common diseases and diagnosing rare disorders. With the current progress of accurate long-read sequencing technologies (e.g. circular consensus sequencing from PacBio sequencers), we can dive into studying repeat regions of the genome (e.g. segmental duplications) and hard-to-detect variants (e.g. complex structural variants). Results We propose a novel framework for comparative genome analysis through the discovery of strings that are specific to one genome (‘samples-specific’ strings). We have developed a novel, accurate and efficient computational method for the discovery of sample-specific strings between two groups of WGS samples. The proposed approach will give us the ability to perform comparative genome analysis without the need to map the reads and is not hindered by shortcomings of the reference genome and mapping algorithms. We show that the proposed approach is capable of accurately finding sample-specific strings representing nearly all variation (>98%) reported across pairs or trios of WGS samples using accurate long reads (e.g. PacBio HiFi data). Availability and implementation Data, code and instructions for reproducing the results more » presented in this manuscript are publicly available at https://github.com/Parsoa/PingPong. Supplementary information Supplementary data are available at Bioinformatics Advances online. « less
Authors:
; ; ; ;
Editors:
Stamatakis, Alexandros
Award ID(s):
2042518
Publication Date:
NSF-PAR ID:
10314676
Journal Name:
Bioinformatics Advances
Volume:
1
Issue:
1
ISSN:
2635-0041
Sponsoring Org:
National Science Foundation
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