An official website of the United States government
Large, polymorphic inversions can contribute to population structure and enable mutually-exclusive adaptations to survive in the same population. Current methods for detecting inversions from single-nucleotide polymorphisms (SNPs) called from population genomics data require an experienced, human user to prepare the data and interpret the results. Ideally, these methods would be completely automated yet robust to allow usage by inexperienced users. Towards this goal, automated approaches for segmentation of inversions and inference of sample genotypes are introduced and evaluated on chromosomes from flies, mosquitoes, and prairie sunflowers.
more »
« less
Fast, low-memory detection and localization of large, polymorphic inversions from SNPs
Background Large (>1 Mb), polymorphic inversions have substantial impacts on population structure and maintenance of genotypes. These large inversions can be detected from single nucleotide polymorphism (SNP) data using unsupervised learning techniques like PCA. Construction and analysis of a feature matrix from millions of SNPs requires large amount of memory and limits the sizes of data sets that can be analyzed. Methods We propose using feature hashing construct a feature matrix from a VCF file of SNPs for reducing memory usage. The matrix is constructed in a streaming fashion such that the entire VCF file is never loaded into memory at one time. Results When evaluated on Anopheles mosquito and Drosophila fly data sets, our approach reduced memory usage by 97% with minimal reductions in accuracy for inversion detection and localization tasks. Conclusion With these changes, inversions in larger data sets can be analyzed easily and efficiently on common laptop and desktop computers. Our method is publicly available through our open-source inversion analysis software, Asaph.
more »
« less
- Award ID(s):
- 1947257
- PAR ID:
- 10329957
- Date Published:
- Journal Name:
- PeerJ
- Volume:
- 10
- ISSN:
- 2167-8359
- Page Range / eLocation ID:
- e12831
- Format(s):
- Medium: X
- Sponsoring Org:
- National Science Foundation
More Like this
-
-
Purugganan, Michael (Ed.)Abstract Structural variants (SVs) are a largely unstudied feature of plant genome evolution, despite the fact that SVs contribute substantially to phenotypes. In this study, we discovered SVs across a population sample of 347 high-coverage, resequenced genomes of Asian rice (Oryza sativa) and its wild ancestor (O. rufipogon). In addition to this short-read data set, we also inferred SVs from whole-genome assemblies and long-read data. Comparisons among data sets revealed different features of genome variability. For example, genome alignment identified a large (∼4.3 Mb) inversion in indica rice varieties relative to japonica varieties, and long-read analyses suggest that ∼9% of genes from the outgroup (O. longistaminata) are hemizygous. We focused, however, on the resequencing sample to investigate the population genomics of SVs. Clustering analyses with SVs recapitulated the rice cultivar groups that were also inferred from SNPs. However, the site-frequency spectrum of each SV type—which included inversions, duplications, deletions, translocations, and mobile element insertions—was skewed toward lower frequency variants than synonymous SNPs, suggesting that SVs may be predominantly deleterious. Among transposable elements, SINE and mariner insertions were found at especially low frequency. We also used SVs to study domestication by contrasting between rice and O. rufipogon. Cultivated genomes contained ∼25% more derived SVs and mobile element insertions than O. rufipogon, indicating that SVs contribute to the cost of domestication in rice. Peaks of SV divergence were enriched for known domestication genes, but we also detected hundreds of genes gained and lost during domestication, some of which were enriched for traits of agronomic interest.more » « less
-
de los Campos, G (Ed.)Abstract The Context-dependent Mutation Analysis Package and Visualization Software (CDMAP/CDVIS) is an automated, modular toolkit used for the analysis and visualization of context-dependent mutation patterns (site-specific variation in mutation rate from neighboring-nucleotide effects). The CDMAP computes context-dependent mutation rates using a Variant Call File (VCF), Genbank file, and reference genome and can generate high-resolution figures to analyze variation in mutation rate across spatiotemporal scales. This algorithm has been benchmarked against mutation accumulation data but can also be used to calculate context-dependent mutation rates for polymorphism or closely related species as long as the input requirements are met. Output from CDMAP can be integrated into CDVIS, an interactive database for visualizing mutation patterns across multiple taxa simultaneously.more » « less
-
null (Ed.)SUMMARY We discuss the focusing inversion of potential field data for the recovery of sparse subsurface structures from surface measurement data on a uniform grid. For the uniform grid, the model sensitivity matrices have a block Toeplitz Toeplitz block structure for each block of columns related to a fixed depth layer of the subsurface. Then, all forward operations with the sensitivity matrix, or its transpose, are performed using the 2-D fast Fourier transform. Simulations are provided to show that the implementation of the focusing inversion algorithm using the fast Fourier transform is efficient, and that the algorithm can be realized on standard desktop computers with sufficient memory for storage of volumes up to size n ≈ 106. The linear systems of equations arising in the focusing inversion algorithm are solved using either Golub–Kahan bidiagonalization or randomized singular value decomposition algorithms. These two algorithms are contrasted for their efficiency when used to solve large-scale problems with respect to the sizes of the projected subspaces adopted for the solutions of the linear systems. The results confirm earlier studies that the randomized algorithms are to be preferred for the inversion of gravity data, and for data sets of size m it is sufficient to use projected spaces of size approximately m/8. For the inversion of magnetic data sets, we show that it is more efficient to use the Golub–Kahan bidiagonalization, and that it is again sufficient to use projected spaces of size approximately m/8. Simulations support the presented conclusions and are verified for the inversion of a magnetic data set obtained over the Wuskwatim Lake region in Manitoba, Canada.more » « less
-
In genetic mapping studies involving many individuals, genome-wide markers such as single nucleotide polymorphisms (SNPs) can be detected using different methods. However, it comes with some errors. Some SNPs associated with diseases can be in regions encoding long noncoding RNAs (lncRNAs). Therefore, identifying the errors in genotype file and correcting them is crucial for accurate genetic mapping studies. We develop a Python tool called PySmooth, that offers an easy-to-use command line interface for the removal and correction of genotyping errors. PySmooth uses the approach of a previous tool called SMOOTH with some modifications. It inputs a genotype file, detects errors and corrects them. PySmooth provides additional features such as imputing missing data, better user-friendly usage, generates summary and visualization files, has flexible parameters, and handles more genotype codes.more » « less
- Free Publicly Accessible Full Text
-
Accepted Manuscript1.0
- Journal Article:
- https://doi.org/10.7717/peerj.12831
