Dataset Information

Psi-Caller: A Lightweight Short Read-Based Variant Caller With High Speed and Accuracy.

ABSTRACT: With the rapid development of short-read sequencing technologies, many population-scale resequencing studies have been carried out to study the associations between human genome variants and various phenotypes in recent years. Variant calling is one of the core bioinformatics tasks in such studies to comprehensively discover genomic variants in sequenced samples. Many efforts have been made to develop short read-based variant calling approaches; however, state-of-the-art tools are still computationally expensive. Meanwhile, cutting-edge genomics studies also have higher requirements on the yields of variant calling. Herein, we propose Partial-Order Alignment-based single nucleotide polymorphism (SNV) and Indel caller (Psi-caller), a lightweight variant calling algorithm that simultaneously achieves high performance and yield. Mainly, Psi-caller recognizes and divides the candidate variant site into three categories according to the complexity and location of the signatures and employs various methods including binomial model, partial-order alignment, and de Bruijn graph-based local assembly to handle various categories of candidate variant sites to call and genotype SNVs/Indels, respectively. Benchmarks on simulated and real short-read sequencing data sets demonstrate that Psi-caller is times faster than state-of-the-art tools with higher or equal sensitivity and accuracy. It has the potential to well handle large-scale data sets in cutting-edge genomics studies.

SUBMITTER: Liu Y

PROVIDER: S-EPMC8414796 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:We recently described Hi-Plex, a highly multiplexed PCR-based target-enrichment system for massively parallel sequencing (MPS), which allows the uniform definition of library size so that subsequent paired-end sequencing can achieve complete overlap of read pairs. Variant calling from Hi-Plex-derived datasets can thus rely on the identification of variants appearing in both reads of read-pairs, permitting stringent filtering of sequencing chemistry-induced errors. These principles underly ROVER software (derived from Read Overlap PCR-MPS variant caller), which we have recently used to report the screening for genetic mutations in the breast cancer predisposition gene PALB2. Here, we describe the algorithms underlying ROVER and its usage. RESULTS:ROVER enables users to quickly and accurately identify genetic variants from PCR-targeted, overlapping paired-end MPS datasets. The open-source availability of the software and threshold tailorability enables broad access for a range of PCR-MPS users. METHODS:ROVER is implemented in Python and runs on all popular POSIX-like operating systems (Linux, OS X). The software accepts a tab-delimited text file listing the coordinates of the target-specific primers used for targeted enrichment based on a specified genome-build. It also accepts aligned sequence files resulting from mapping to the same genome-build. ROVER identifies the amplicon a given read-pair represents and removes the primer sequences by using the mapping co-ordinates and primer co-ordinates. It considers overlapping read-pairs with respect to primer-intervening sequence. Only when a variant is observed in both reads of a read-pair does the signal contribute to a tally of read-pairs containing or not containing the variant. A user-defined threshold informs the minimum number of, and proportion of, read-pairs a variant must be observed in for a 'call' to be made. ROVER also reports the depth of coverage across amplicons to facilitate the identification of any regions that may require further screening. CONCLUSIONS:ROVER can facilitate rapid and accurate genetic variant calling for a broad range of PCR-MPS users.

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Psi-Caller: A Lightweight Short Read-Based Variant Caller With High Speed and Accuracy.

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