arXiv subjects

Can Firtina

Publications and source records attributed to Can Firtina.

31 records · Page 2Linked to original sources

arXiv2023

ApHMM: Accelerating Profile Hidden Markov Models for Fast and Energy-Efficient Genome Analysis

Profile hidden Markov models (pHMMs) are widely employed in various bioinformatics applications to identify similarities between biological sequences, such as DNA or protein sequences. In pHMMs, sequences are represented as graph structures. These probabilities are subsequently used to compute the similarity score between a sequence and a pHMM graph. The Baum-Welch algorithm, a prevalent and highly accurate method, utilizes these probabilities to optimize and compute similarity scores. However, the Baum-Welch algorithm is computationally intensive, and existing solutions offer either software-only or hardware-only approaches with fixed pHMM designs. We identify an urgent need for a flexible, high-performance, and energy-efficient HW/SW co-design to address the major inefficiencies in the Baum-Welch algorithm for pHMMs. We introduce ApHMM, the first flexible acceleration framework designed to significantly reduce both computational and energy overheads associated with the Baum-Welch algorithm for pHMMs. ApHMM tackles the major inefficiencies in the Baum-Welch algorithm by 1) designing flexible hardware to accommodate various pHMM designs, 2) exploiting predictable data dependency patterns through on-chip memory with memoization techniques, 3) rapidly filtering out negligible computations using a hardware-based filter, and 4) minimizing redundant computations. ApHMM achieves substantial speedups of 15.55x - 260.03x, 1.83x - 5.34x, and 27.97x when compared to CPU, GPU, and FPGA implementations of the Baum-Welch algorithm, respectively. ApHMM outperforms state-of-the-art CPU implementations in three key bioinformatics applications: 1) error correction, 2) protein family search, and 3) multiple sequence alignment, by 1.29x - 59.94x, 1.03x - 1.75x, and 1.03x - 1.95x, respectively, while improving their energy efficiency by 64.24x - 115.46x, 1.75x, 1.96x.

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arXiv2023

Utopia: Fast and Efficient Address Translation via Hybrid Restrictive & Flexible Virtual-to-Physical Address Mappings

Conventional virtual memory (VM) frameworks enable a virtual address to flexibly map to any physical address. This flexibility necessitates large data structures to store virtual-to-physical mappings, which leads to high address translation latency and large translation-induced interference in the memory hierarchy. On the other hand, restricting the address mapping so that a virtual address can only map to a specific set of physical addresses can significantly reduce address translation overheads by using compact and efficient translation structures. However, restricting the address mapping flexibility across the entire main memory severely limits data sharing across different processes and increases data accesses to the swap space of the storage device, even in the presence of free memory. We propose Utopia, a new hybrid virtual-to-physical address mapping scheme that allows both flexible and restrictive hash-based address mapping schemes to harmoniously co-exist in the system. The key idea of Utopia is to manage physical memory using two types of physical memory segments: restrictive and flexible segments. A restrictive segment uses a restrictive, hash-based address mapping scheme that maps virtual addresses to only a specific set of physical addresses and enables faster address translation using compact translation structures. A flexible segment employs the conventional fully-flexible address mapping scheme. By mapping data to a restrictive segment, Utopia enables faster address translation with lower translation-induced interference. Utopia improves performance by 24% in a single-core system over the baseline system, whereas the best prior state-of-the-art contiguity-aware translation scheme improves performance by 13%.

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arXiv2023

RawHash: Enabling Fast and Accurate Real-Time Analysis of Raw Nanopore Signals for Large Genomes

Nanopore sequencers generate electrical raw signals in real-time while sequencing long genomic strands. These raw signals can be analyzed as they are generated, providing an opportunity for real-time genome analysis. An important feature of nanopore sequencing, Read Until, can eject strands from sequencers without fully sequencing them, which provides opportunities to computationally reduce the sequencing time and cost. However, existing works utilizing Read Until either 1) require powerful computational resources that may not be available for portable sequencers or 2) lack scalability for large genomes, rendering them inaccurate or ineffective. We propose RawHash, the first mechanism that can accurately and efficiently perform real-time analysis of nanopore raw signals for large genomes using a hash-based similarity search. To enable this, RawHash ensures the signals corresponding to the same DNA content lead to the same hash value, regardless of the slight variations in these signals. RawHash achieves an accurate hash-based similarity search via an effective quantization of the raw signals such that signals corresponding to the same DNA content have the same quantized value and, subsequently, the same hash value. We evaluate RawHash on three applications: 1) read mapping, 2) relative abundance estimation, and 3) contamination analysis. Our evaluations show that RawHash is the only tool that can provide high accuracy and high throughput for analyzing large genomes in real-time. When compared to the state-of-the-art techniques, UNCALLED and Sigmap, RawHash provides 1) 25.8x and 3.4x better average throughput and 2) significantly better accuracy for large genomes, respectively. Source code is available at https://github.com/CMU-SAFARI/RawHash.

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arXiv2023

Accelerating Genome Analysis via Algorithm-Architecture Co-Design

High-throughput sequencing (HTS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective genome analysis for various applications. However, the increasing volume of genomic data generated by HTS technologies presents significant challenges for computational techniques to effectively analyze genomes. To address these challenges, several algorithm-architecture co-design works have been proposed, targeting different steps of the genome analysis pipeline. These works explore emerging technologies to provide fast, accurate, and low-power genome analysis. This paper provides a brief review of the recent advancements in accelerating genome analysis, covering the opportunities and challenges associated with the acceleration of the key steps of the genome analysis pipeline. Our analysis highlights the importance of integrating multiple steps of genome analysis using suitable architectures to unlock significant performance improvements and reduce data movement and energy consumption. We conclude by emphasizing the need for novel strategies and techniques to address the growing demands of genomic data generation and analysis.

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arXiv2023

BLEND: A Fast, Memory-Efficient, and Accurate Mechanism to Find Fuzzy Seed Matches in Genome Analysis

Generating the hash values of short subsequences, called seeds, enables quickly identifying similarities between genomic sequences by matching seeds with a single lookup of their hash values. However, these hash values can be used only for finding exact-matching seeds as the conventional hashing methods assign distinct hash values for different seeds, including highly similar seeds. Finding only exact-matching seeds causes either 1) increasing the use of the costly sequence alignment or 2) limited sensitivity. We introduce BLEND, the first efficient and accurate mechanism that can identify both exact-matching and highly similar seeds with a single lookup of their hash values, called fuzzy seed matches. BLEND 1) utilizes a technique called SimHash, that can generate the same hash value for similar sets, and 2) provides the proper mechanisms for using seeds as sets with the SimHash technique to find fuzzy seed matches efficiently. We show the benefits of BLEND when used in read overlapping and read mapping. For read overlapping, BLEND is faster by 2.4x - 83.9x (on average 19.3x), has a lower memory footprint by 0.9x - 14.1x (on average 3.8x), and finds higher quality overlaps leading to accurate de novo assemblies than the state-of-the-art tool, minimap2. For read mapping, BLEND is faster by 0.8x - 4.1x (on average 1.7x) than minimap2. Source code is available at https://github.com/CMU-SAFARI/BLEND.

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arXiv2023

GenStore: A High-Performance and Energy-Efficient In-Storage Computing System for Genome Sequence Analysis

Read mapping is a fundamental, yet computationally-expensive step in many genomics applications. It is used to identify potential matches and differences between fragments (called reads) of a sequenced genome and an already known genome (called a reference genome). To address the computational challenges in genome analysis, many prior works propose various approaches such as filters that select the reads that must undergo expensive computation, efficient heuristics, and hardware acceleration. While effective at reducing the computation overhead, all such approaches still require the costly movement of a large amount of data from storage to the rest of the system, which can significantly lower the end-to-end performance of read mapping in conventional and emerging genomics systems. We propose GenStore, the first in-storage processing system designed for genome sequence analysis that greatly reduces both data movement and computational overheads of genome sequence analysis by exploiting low-cost and accurate in-storage filters. GenStore leverages hardware/software co-design to address the challenges of in-storage processing, supporting reads with 1) different read lengths and error rates, and 2) different degrees of genetic variation. Through rigorous analysis of read mapping processes, we meticulously design low-cost hardware accelerators and data/computation flows inside a NAND flash-based SSD. Our evaluation using a wide range of real genomic datasets shows that GenStore, when implemented in three modern SSDs, significantly improves the read mapping performance of state-of-the-art software (hardware) baselines by 2.07-6.05$\times$ (1.52-3.32$\times$) for read sets with high similarity to the reference genome and 1.45-33.63$\times$ (2.70-19.2$\times$) for read sets with low similarity to the reference genome.

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arXiv2022

FastRemap: A Tool for Quickly Remapping Reads between Genome Assemblies

A genome read data set can be quickly and efficiently remapped from one reference to another similar reference (e.g., between two reference versions or two similar species) using a variety of tools, e.g., the commonly-used CrossMap tool. With the explosion of available genomic data sets and references, high-performance remapping tools will be even more important for keeping up with the computational demands of genome assembly and analysis. We provide FastRemap, a fast and efficient tool for remapping reads between genome assemblies. FastRemap provides up to a 7.82$\times$ speedup (6.47$\times$, on average) and uses as low as 61.7% (80.7%, on average) of the peak memory consumption compared to the state-of-the-art remapping tool, CrossMap. FastRemap is written in C++. The source code and user manual are freely available at: github.com/CMU-SAFARI/FastRemap. Docker image available at: https://hub.docker.com/r/alkanlab/fast. Also available in Bioconda at: https://anaconda.org/bioconda/fastremap-bio.

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arXiv2022

Demeter: A Fast and Energy-Efficient Food Profiler using Hyperdimensional Computing in Memory

Food profiling is an essential step in any food monitoring system needed to prevent health risks and potential frauds in the food industry. Significant improvements in sequencing technologies are pushing food profiling to become the main computational bottleneck. State-of-the-art profilers are unfortunately too costly for food profiling. Our goal is to design a food profiler that solves the main limitations of existing profilers, namely (1) working on massive data structures and (2) incurring considerable data movement for a real-time monitoring system. To this end, we propose Demeter, the first platform-independent framework for food profiling. Demeter overcomes the first limitation through the use of hyperdimensional computing (HDC) and efficiently performs the accurate few-species classification required in food profiling. We overcome the second limitation by using an in-memory hardware accelerator for Demeter (named Acc-Demeter) based on memristor devices. Acc-Demeter actualizes several domain-specific optimizations and exploits the inherent characteristics of memristors to improve the overall performance and energy consumption of Acc-Demeter. We compare Demeter's accuracy with other industrial food profilers using detailed software modeling. We synthesize Acc-Demeter's required hardware using UMC's 65nm library by considering an accurate PCM model based on silicon-based prototypes. Our evaluations demonstrate that Acc-Demeter achieves a (1) throughput improvement of 192x and 724x and (2) memory reduction of 36x and 33x compared to Kraken2 and MetaCache (2 state-of-the-art profilers), respectively, on typical food-related databases. Demeter maintains an acceptable profiling accuracy (within 2% of existing tools) and incurs a very low area overhead.

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arXiv2022

SeGraM: A Universal Hardware Accelerator for Genomic Sequence-to-Graph and Sequence-to-Sequence Mapping

A critical step of genome sequence analysis is the mapping of sequenced DNA fragments (i.e., reads) collected from an individual to a known linear reference genome sequence (i.e., sequence-to-sequence mapping). Recent works replace the linear reference sequence with a graph-based representation of the reference genome, which captures the genetic variations and diversity across many individuals in a population. Mapping reads to the graph-based reference genome (i.e., sequence-to-graph mapping) results in notable quality improvements in genome analysis. Unfortunately, while sequence-to-sequence mapping is well studied with many available tools and accelerators, sequence-to-graph mapping is a more difficult computational problem, with a much smaller number of practical software tools currently available. We analyze two state-of-the-art sequence-to-graph mapping tools and reveal four key issues. We find that there is a pressing need to have a specialized, high-performance, scalable, and low-cost algorithm/hardware co-design that alleviates bottlenecks in both the seeding and alignment steps of sequence-to-graph mapping. To this end, we propose SeGraM, a universal algorithm/hardware co-designed genomic mapping accelerator that can effectively and efficiently support both sequence-to-graph mapping and sequence-to-sequence mapping, for both short and long reads. To our knowledge, SeGraM is the first algorithm/hardware co-design for accelerating sequence-to-graph mapping. SeGraM consists of two main components: (1) MinSeed, the first minimizer-based seeding accelerator; and (2) BitAlign, the first bitvector-based sequence-to-graph alignment accelerator. We demonstrate that SeGraM provides significant improvements for multiple steps of the sequence-to-graph and sequence-to-sequence mapping pipelines.

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arXiv2022

Going From Molecules to Genomic Variations to Scientific Discovery: Intelligent Algorithms and Architectures for Intelligent Genome Analysis

We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently exist major computational bottlenecks and inefficiencies throughout the entire genome analysis pipeline, because state-of-the-art genome sequencing technologies are still not able to read a genome in its entirety. We describe the ongoing journey in significantly improving the performance, accuracy, and efficiency of genome analysis using intelligent algorithms and hardware architectures. We explain state-of-the-art algorithmic methods and hardware-based acceleration approaches for each step of the genome analysis pipeline and provide experimental evaluations. Algorithmic approaches exploit the structure of the genome as well as the structure of the underlying hardware. Hardware-based acceleration approaches exploit specialized microarchitectures or various execution paradigms (e.g., processing inside or near memory) along with algorithmic changes, leading to new hardware/software co-designed systems. We conclude with a foreshadowing of future challenges, benefits, and research directions triggered by the development of both very low cost yet highly error prone new sequencing technologies and specialized hardware chips for genomics. We hope that these efforts and the challenges we discuss provide a foundation for future work in making genome analysis more intelligent. The analysis script and data used in our experimental evaluation are available at: https://github.com/CMU-SAFARI/Molecules2Variations

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arXiv2022

Packaging, containerization, and virtualization of computational omics methods: Advances, challenges, and opportunities

Omics software tools have reshaped the landscape of modern biology and become an essential component of biomedical research. The increasing dependence of biomedical scientists on these powerful tools creates a need for easier installation and greater usability. Packaging, virtualization, and containerization are different approaches to satisfy this need by wrapping omics tools in additional software that makes the omics tools easier to install and use. Here, we systematically review practices across prominent packaging, virtualization, and containerization platforms. We outline the challenges, advantages, and limitations of each approach and some of the most widely used platforms from the perspectives of users, software developers, and system administrators. We also propose principles to make packaging, virtualization, and containerization of omics software more sustainable and robust to increase the reproducibility of biomedical and life science research.

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arXiv2020

GenASM: A High-Performance, Low-Power Approximate String Matching Acceleration Framework for Genome Sequence Analysis

Genome sequence analysis has enabled significant advancements in medical and scientific areas such as personalized medicine, outbreak tracing, and the understanding of evolution. Unfortunately, it is currently bottlenecked by the computational power and memory bandwidth limitations of existing systems, as many of the steps in genome sequence analysis must process a large amount of data. A major contributor to this bottleneck is approximate string matching (ASM). We propose GenASM, the first ASM acceleration framework for genome sequence analysis. We modify the underlying ASM algorithm (Bitap) to significantly increase its parallelism and reduce its memory footprint, and we design the first hardware accelerator for Bitap. Our hardware accelerator consists of specialized compute units and on-chip SRAMs that are designed to match the rate of computation with memory capacity and bandwidth. We demonstrate that GenASM is a flexible, high-performance, and low-power framework, which provides significant performance and power benefits for three different use cases in genome sequence analysis: 1) GenASM accelerates read alignment for both long reads and short reads. For long reads, GenASM outperforms state-of-the-art software and hardware accelerators by 116x and 3.9x, respectively, while consuming 37x and 2.7x less power. For short reads, GenASM outperforms state-of-the-art software and hardware accelerators by 111x and 1.9x. 2) GenASM accelerates pre-alignment filtering for short reads, with 3.7x the performance of a state-of-the-art pre-alignment filter, while consuming 1.7x less power and significantly improving the filtering accuracy. 3) GenASM accelerates edit distance calculation, with 22-12501x and 9.3-400x speedups over the state-of-the-art software library and FPGA-based accelerator, respectively, while consuming 548-582x and 67x less power.

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arXiv2020

Apollo: A Sequencing-Technology-Independent, Scalable, and Accurate Assembly Polishing Algorithm

Long reads produced by third-generation sequencing technologies are used to construct an assembly (i.e., the subject's genome), which is further used in downstream genome analysis. Unfortunately, long reads have high sequencing error rates and a large proportion of bps in these long reads are incorrectly identified. These errors propagate to the assembly and affect the accuracy of genome analysis. Assembly polishing algorithms minimize such error propagation by polishing or fixing errors in the assembly by using information from alignments between reads and the assembly (i.e., read-to-assembly alignment information). However, assembly polishing algorithms can only polish an assembly using reads either from a certain sequencing technology or from a small assembly. Such technology-dependency and assembly-size dependency require researchers to 1) run multiple polishing algorithms and 2) use small chunks of a large genome to use all available read sets and polish large genomes. We introduce Apollo, a universal assembly polishing algorithm that scales well to polish an assembly of any size (i.e., both large and small genomes) using reads from all sequencing technologies (i.e., second- and third-generation). Our goal is to provide a single algorithm that uses read sets from all available sequencing technologies to improve the accuracy of assembly polishing and that can polish large genomes. Apollo 1) models an assembly as a profile hidden Markov model (pHMM), 2) uses read-to-assembly alignment to train the pHMM with the Forward-Backward algorithm, and 3) decodes the trained model with the Viterbi algorithm to produce a polished assembly. Our experiments with real read sets demonstrate that Apollo is the only algorithm that 1) uses reads from any sequencing technology within a single run and 2) scales well to polish large assemblies without splitting the assembly into multiple parts.

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