Suchergebnisse

Pre-alignment filters are useful for reducing the computational requirements of genomic sequence mappers. Most of them are based on estimating or computing the edit distance between sequences and their candidate locations in a reference genome using a subset of the dynamic programming table used to compute Levenshtein distance. Some of their FPGA implementations of use classic HDL toolchains, thus limiting their portability. Currently, most FPGA accelerators offered by heterogeneous cloud providers support C/C++ HLS. In this work, we implement and optimize several state-of-the-art pre-alignment filters using C/C++ based-HLS to expand their portability to a wide range of systems supporting the OpenCL runtime. Moreover, we perform a complete analysis of the performance and accuracy of the filters and analyze the implications of the results. The maximum throughput obtained by an exact filter is 95.1 MPairs/s including memory transfers using 100 bp sequences, which is the highest ever reported for a comparable system and more than two times faster than previous HDL-based results. The best energy efficiency obtained from the accelerator (not considering host CPU) is 2.1 MPairs/J, more than one order of magnitude higher than other accelerator-based comparable approaches from the state of the art. ; 10.13039/501100008530-European Union Regional Development Fund (ERDF) within the framework of the ERDF Operational Program of Catalonia 2014-2020 with a grant of 50% of the total cost eligible under the Designing RISC-V based Accelerators for next generation computers project (DRAC) (Grant Number: [001-P-001723]) 10.13039/501100002809-Catalan Government (Grant Number: 2017-SGR-313 and 2017-SGR-1624) 10.13039/501100004837-Spanish Ministry of Science, Innovation and Universities (Grant Number: PID2020-113614RB-C21 and RTI2018-095209-B-C22) ; Peer Reviewed ; Postprint (published version)

Motivation Pairwise alignment of sequences is a fundamental method in modern molecular biology, implemented within multiple bioinformatics tools and libraries. Current advances in sequencing technologies press for the development of faster pairwise alignment algorithms that can scale with increasing read lengths and production yields. Results In this paper, we present the wavefront alignment algorithm (WFA), an exact gap-affine algorithm that takes advantage of homologous regions between the sequences to accelerate the alignment process. As opposed to traditional dynamic programming algorithms that run in quadratic time, the WFA runs in time O(ns), proportional to the read length n and the alignment score s, using O(s2) memory. Furthermore, our algorithm exhibits simple data dependencies that can be easily vectorized, even by the automatic features of modern compilers, for different architectures, without the need to adapt the code. We evaluate the performance of our algorithm, together with other state-of-the-art implementations. As a result, we demonstrate that the WFA runs 20-300x faster than other methods aligning short Illumina-like sequences, and 10-100x faster using long noisy reads like those produced by Oxford Nanopore Technologies. Availability The WFA algorithm is implemented within the wavefront-aligner library, and it is publicly available at https://github.com/smarco/WFA ; This research has been supported by the European Unions's Horizon 2020 Framework Programme under the DeepHealth project (grant agreement number 825111), by the European Union Regional Development Fund within the framework of the ERDF Operational Program of Catalonia 2014-2020 with a grant of 50% of total cost eligible under the DRAC project (grant agreement 001-P-001723), by the MINECO-Spain (contracts TIN2017-84553-C2-1-R and TIN2015-65316-P), and by the Catalan government (contracts 2017-SGR-313, 2017-SGR-1328 and 2017-SGR-1414). M. Moretó has been partially supported by the Spanish Ministry of Economy, Industry and Competitiveness under Ramón y Cajal fellowship number RYC-2016-21104. ; Peer Reviewed ; Postprint (published version)

Millions of species are currently being sequenced, and their genomes are being compared. Many of them have more complex genomes than model systems and raise novel challenges for genome alignment. Widely used local alignment strategies often produce limited or incongruous results when applied to genomes with dispersed repeats, long indels, and highly diverse sequences. Moreover, alignment using many-to-many or reciprocal best hit approaches conflicts with well-studied patterns between species with different rounds of whole-genome duplication. Here, we introduce Anchored Wavefront alignment (AnchorWave), which performs whole-genome duplication–informed collinear anchor identification between genomes and performs base pair–resolved global alignment for collinear blocks using a two-piece affine gap cost strategy. This strategy enables AnchorWave to precisely identify multikilobase indels generated by transposable element (TE) presence/absence variants (PAVs). When aligning two maize genomes, AnchorWave successfully recalled 87% of previously reported TE PAVs. By contrast, other genome alignment tools showed low power for TE PAV recall. AnchorWave precisely aligns up to three times more of the genome as position matches or indels than the closest competitive approach when comparing diverse genomes. Moreover, AnchorWave recalls transcription factor–binding sites at a rate of 1.05- to 74.85-fold higher than other tools with significantly lower false-positive alignments. AnchorWave complements available genome alignment tools by showing obvious improvement when applied to genomes with dispersed repeats, active TEs, high sequence diversity, and whole-genome duplication variation. ; This project is supported by the United States Department of Agriculture Agricultural Research Service, NSF No. 1822330, NSF No. 1854828, the European Union's Horizon 2020 Framework Programme under the DeepHealth project [825111], the European Union Regional Development Fund within the framework of The European Regional Development Fund Operational Program of Catalonia 2014 to 2020 with a grant of 50% of total cost eligible under the DRAC project [001-P-001723], and National Natural Science Foundation of China No. 31900486. M.C.S. was supported by NSF Postdoctoral Research Fellowship in Biology No. 1907343. M.M. was partially supported by the Spanish Ministry of Economy, Industry, and Competitiveness under Ramón y Cajal (RYC) fellowship number RYC-2016-21104. ; Peer Reviewed ; Postprint (published version)