Bivartect: accurate and memory-saving breakpoint detection by direct read comparison
Abstract Motivation Genetic variant calling with high-throughput sequencing data has been recognized as a useful tool for better understanding of disease mechanism and detection of potential off-target sites in genome editing. Since most of the variant calling algorithms rely on initial mapping onto...
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Published in | Bioinformatics Vol. 36; no. 9; pp. 2725 - 2730 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
England
Oxford University Press
01.05.2020
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Subjects | |
Online Access | Get full text |
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Summary: | Abstract
Motivation
Genetic variant calling with high-throughput sequencing data has been recognized as a useful tool for better understanding of disease mechanism and detection of potential off-target sites in genome editing. Since most of the variant calling algorithms rely on initial mapping onto a reference genome and tend to predict many variant candidates, variant calling remains challenging in terms of predicting variants with low false positives.
Results
Here we present Bivartect, a simple yet versatile variant caller based on direct comparison of short sequence reads between normal and mutated samples. Bivartect can detect not only single nucleotide variants but also insertions/deletions, inversions and their complexes. Bivartect achieves high predictive performance with an elaborate memory-saving mechanism, which allows Bivartect to run on a computer with a single node for analyzing small omics data. Tests with simulated benchmark and real genome-editing data indicate that Bivartect was comparable to state-of-the-art variant callers in positive predictive value for detection of single nucleotide variants, even though it yielded a substantially small number of candidates. These results suggest that Bivartect, a reference-free approach, will contribute to the identification of germline mutations as well as off-target sites introduced during genome editing with high accuracy.
Availability and implementation
Bivartect is implemented in C++ and available along with in silico simulated data at https://github.com/ykat0/bivartect.
Supplementary information
Supplementary data are available at Bioinformatics online. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1367-4803 1460-2059 1367-4811 |
DOI: | 10.1093/bioinformatics/btaa059 |