Nika Mansouri Ghiasi

Meryem Banu Cavlak, Gagandeep Singh, Mohammed Alser et al.

Basecalling is an essential step in nanopore sequencing analysis where the raw signals of nanopore sequencers are converted into nucleotide sequences, i.e., reads. State-of-the-art basecallers employ complex deep learning models to achieve high basecalling accuracy. This makes basecalling computationally inefficient and memory-hungry, bottlenecking the entire genome analysis pipeline. However, for many applications, the majority of reads do no match the reference genome of interest (i.e., target reference) and thus are discarded in later steps in the genomics pipeline, wasting the basecalling computation. To overcome this issue, we propose TargetCall, the first pre-basecalling filter to eliminate the wasted computation in basecalling. TargetCall's key idea is to discard reads that will not match the target reference (i.e., off-target reads) prior to basecalling. TargetCall consists of two main components: (1) LightCall, a lightweight neural network basecaller that produces noisy reads; and (2) Similarity Check, which labels each of these noisy reads as on-target or off-target by matching them to the target reference. Our thorough experimental evaluations show that TargetCall 1) improves the end-to-end basecalling runtime performance of the state-of-the-art basecaller by 3.31x while maintaining high (98.88%) recall in keeping on-target reads, 2) maintains high accuracy in downstream analysis, and 3) achieves better runtime performance, throughput, recall, precision, and generality compared to prior works. TargetCall is available at https://github.com/CMU-SAFARI/TargetCall.

Nika Mansouri Ghiasi, Onur Mutlu

Due to the challenges of analyzing and storing massive volumes of genomic and metagenomic sequence data, significant efforts have been made to accelerate (meta)genomic analyses and store sequence data compressed. Despite the benefits of these techniques, we identify two major outstanding problems in accessing stored sequence data and supplying it to the analysis units: (i) the data movement bottleneck due to moving large amounts of low-reuse data from storage and the unnecessary burden on the rest of the system, and (ii) the data preparation bottleneck, where compressed sequence data needs to be first decompressed and formatted before analysis. We present customized storage-centric systems, which efficiently (i) analyze (meta)genomic data inside storage, and (ii) enable highly-compressed storage and high-performance access of large-scale sequence data, thereby alleviating the overheads of data movement, computation, and data preparation. First, we introduce GenStore, an in-storage processing system that filters genomic data not requiring expensive computation directly inside storage. Second, we propose MegIS, an in-storage processing system that significantly reduces the data movement overhead of metagenomic analysis. Third, we introduce GRAINS, a storage-centric system for analysis on large-scale (meta)genomic graphs in storage. Fourth, we propose SAGe, an algorithm-architecture co-design for highly-compressed storage and high-performance access of sequence data. We demonstrate that the proposed systems significantly (e.g., by one to two orders of magnitude) improve performance, energy efficiency, and cost-efficiency, all at the same time. We hope these systems facilitate broader adoption of (meta)genomics and inspire research on other data-intensive domains in health and life sciences.

Nika Mansouri Ghiasi, Harun Mustafa, Talu Güloglu et al.

Graph-based representations of genome sequences have emerged as a powerful approach for representing massive genomic databases in an expressive and efficient way. Despite their benefits, analysis on large-scale genome graphs incurs significant data movement overhead from the storage system due to accessing large amounts of low-reuse data. Processing data directly inside the storage device can be a fundamental solution for mitigating this overhead. However, none of the existing tools for graph-based genome analysis can be efficiently used inside the storage system due to the limited internal hardware resources in modern SSDs. At the same time, prior storage-centric systems developed for (i) traditional, linear non-graph-based genome analysis or (ii) conventional, non-genomic graph analysis are not suitable for the unique data structures and access patterns of graph-based genome analysis. We propose GRAINS, the first system for analysis with large-scale genome graphs in storage. Through our detailed examination of typical analysis pipelines that operate on genome graphs, we perform storage-aware algorithm-architecture co-design to (i) make these pipelines more storage-friendly and (ii) further improve performance, energy-efficiency, and cost via in-storage and in-flash processing. GRAINS's co-design is based on three key aspects. First, we propose a new batching and execution flow, based on unique features of genome graphs. Second, via in-flash and in-storage processing, we avoid transferring low-reused flash pages. Third, to leverage the full parallelism of flash dies, we design an effective, yet lightweight, scheduling technique, enabled by re-purposing the existing SSD structures. GRAINS provides 2.7x-47.8x speedup (4.4x-31.6x energy reduction) over the state-of-the-art software baselines, and 1.5x-17.0x speedup (3.1x-20.7x energy reduction) over a hardware-accelerated baseline.

Nika Mansouri Ghiasi, Konstantina Koliogeorgi, Onur Mutlu

Recent biotechnological advances enable high-throughput, low-cost, and accurate biological data generation. This wealth of data enables unique opportunities for advancing healthcare. Despite these opportunities, efficiently analyzing large-scale biological data poses significant challenges for conventional computing systems. These systems often cannot keep up with the high-throughput rate at which data is generated, and they face additional constraints related to energy efficiency, scalability, privacy, and security. Therefore, to facilitate the wide adoption of recent advances in healthcare, there is a need to optimize the computing systems to enable high-performance, energy-efficient, low-cost, private, and secure analysis of biological data. We introduce the Architecture for Health (Arch4Health) initiative, which aims to (i) identify and analyze key computational challenges in current and future health- and life science-related applications and (ii) explore how computer architects and computing system designers can advance healthcare by addressing these challenges. In this short paper, we first present the motivations behind the Arch4Health initiative and, second, elaborate on its vision and goals, related topics, Arch4Health workshops, and future outlooks.