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RAiSD detects positive selection based on multiple signatures of a selective sweep and SNP vectors.

ABSTRACT: Selective sweeps leave distinct signatures locally in genomes, enabling the detection of loci that have undergone recent positive selection. Multiple signatures of a selective sweep are known, yet each neutrality test only identifies a single signature. We present RAiSD (Raised Accuracy in Sweep Detection), an open-source software that implements a novel, to our knowledge, and parameter-free detection mechanism that relies on multiple signatures of a selective sweep via the enumeration of SNP vectors. RAiSD achieves higher sensitivity and accuracy than the current state of the art, while the computational complexity is greatly reduced, allowing up to 1000 times faster processing than widely used tools, and negligible memory requirements.

SUBMITTER: Alachiotis N

PROVIDER: S-EPMC6123745 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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RAiSD detects positive selection based on multiple signatures of a selective sweep and SNP vectors.

Alachiotis Nikolaos N Pavlidis Pavlos P

Communications biology 20180627

Selective sweeps leave distinct signatures locally in genomes, enabling the detection of loci that have undergone recent positive selection. Multiple signatures of a selective sweep are known, yet each neutrality test only identifies a single signature. We present RAiSD (Raised Accuracy in Sweep Detection), an open-source software that implements a novel, to our knowledge, and parameter-free detection mechanism that relies on multiple signatures of a selective sweep via the enumeration of SNP ve ...[more]

PMID: 30271960

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Project description:Mycobacterium bovis, a bacterial zoonotic pathogen responsible for the economically and agriculturally important livestock disease bovine tuberculosis (bTB), infects a broad mammalian host range worldwide. This characteristic has led to bidirectional transmission events between livestock and wildlife species as well as the formation of wildlife reservoirs, impacting the success of bTB control measures. Next Generation Sequencing (NGS) has transformed our ability to understand disease transmission events by tracking variant sites, however the genomic signatures related to host adaptation following spillover, alongside the role of other genomic factors in the M. bovis transmission process are understudied problems. We analyzed publicly available M. bovis datasets collected from 700 hosts across three countries with bTB endemic regions (United Kingdom, United States, and New Zealand) to investigate if genomic regions with high SNP density and/or selective sweep sites play a role in Mycobacterium bovis adaptation to new environments (e.g., at the host-species, geographical, and/or sub-population levels). A simulated M. bovis alignment was created to generate null distributions for defining genomic regions with high SNP counts and regions with selective sweeps evidence. Random Forest (RF) models were used to investigate evolutionary metrics within the genomic regions of interest to determine which genomic processes were the best for classifying M. bovis across ecological scales. We identified in the M. bovis genomes 14 and 132 high SNP density and selective sweep regions, respectively. Selective sweep regions were ranked as the most important in classifying M. bovis across the different scales in all RF models. SNP dense regions were found to have high importance in the badger and cattle specific RF models in classifying badger derived isolates from livestock derived ones. Additionally, the genes detected within these genomic regions harbor various pathogenic functions such as virulence and immunogenicity, membrane structure, host survival, and mycobactin production. The results of this study demonstrate how comparative genomics alongside machine learning approaches are useful to investigate further the nature of M. bovis host-pathogen interactions.

Project description:BACKGROUND:Linkage disequilibrium is defined as the non-random associations of alleles at different loci, and it occurs when genotypes at the two loci depend on each other. The model of genetic hitchhiking predicts that strong positive selection affects the patterns of linkage disequilibrium around the site of a beneficial allele, resulting in specific motifs of correlation between neutral polymorphisms that surround the fixed beneficial allele. Increased levels of linkage disequilibrium are observed on the same side of a beneficial allele, and diminish between sites on different sides of a beneficial mutation. This specific pattern of linkage disequilibrium occurs more frequently when positive selection has acted on the population rather than under various neutral models. Thus, detecting such patterns could accurately reveal targets of positive selection along a recombining chromosome or a genome. Calculating linkage disequilibria in whole genomes is computationally expensive because allele correlations need to be evaluated for millions of pairs of sites. To analyze large datasets efficiently, algorithmic implementations used in modern population genetics need to exploit multiple cores of current workstations in a scalable way. However, population genomic datasets come in various types and shapes while typically showing SNP density heterogeneity, which makes the implementation of generally scalable parallel algorithms a challenging task. FINDINGS:Here we present a series of four parallelization strategies targeting shared-memory systems for the computationally intensive problem of detecting genomic regions that have contributed to the past adaptation of the species, also referred to as regions that have undergone a selective sweep, based on linkage disequilibrium patterns. We provide a thorough performance evaluation of the proposed parallel algorithms for computing linkage disequilibrium, and outline the benefits of each approach. Furthermore, we compare the accuracy of our open-source sweep-detection software OmegaPlus, which implements all four parallelization strategies presented here, with a variety of neutrality tests. CONCLUSIONS:The computational demands of selective sweep detection algorithms depend greatly on the SNP density heterogeneity and the data representation. Choosing the right parallel algorithm for the analysis can lead to significant processing time reduction and major energy savings. However, determining which parallel algorithm will execute more efficiently on a specific processor architecture and number of available cores for a particular dataset is not straightforward.

Dataset Information

RAiSD detects positive selection based on multiple signatures of a selective sweep and SNP vectors.

Publications

RAiSD detects positive selection based on multiple signatures of a selective sweep and SNP vectors.

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