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Genomics is playing an important role in transforming healthcare. Genetic data, however, is being produced at a rate that far outpaces Moore's Law. Many efforts have been made to accelerate genomics kernels on modern commodity hardware, such as CPUs and GPUs, as well as custom accelerators (ASICs) for specific genomics kernels. While ASICs provide higher performance and energy efficiency than general-purpose hardware, they incur a high hardware-design cost. Moreover, to extract the best performance, ASICs tend to have significantly different architectures for different kernels. The divergence of ASIC designs makes it difficult to run commonly used modern sequencing analysis pipelines due to software integration and programming challenges. With the observation that many genomics kernels are dominated by dynamic programming (DP) algorithms, this paper presents GenDP, a framework of dynamic programming acceleration includingDPAx, a DP accelerator, andDPMap, a graph-partitioning algorithm that maps DP objective functions to the accelerator. DPAx supports DP kernels with various dependency patterns, such as 1D and 2D DP tables and long-range dependencies in the graph structure. DPAx also supports different DP objective functions and precisions required for genomics applications. GenDP is evaluated on genomics kernels in both short-read and long-read analysis pipelines, achieving 157.8 $\times$ $throughput/m{m}^2$ over GPU baselines and 132.0 $\times$ $throughput/m{m}^2$ over CPU baselines. 

Abstract Molecular markers are essential for cancer diagnosis, clinical trial enrollment, and some surgical decision making, motivating ultra-rapid, intraoperative variant detection. Sequencing-based detection is considered the gold standard approach, but typically takes hours to perform due to time-consuming DNA extraction, targeted amplification, and library preparation times. In this work, we present a proof-of-principle approach for sub-1 hour targeted variant detection using real-time DNA sequencers. By modifying existing protocols, optimizing for diagnostic time-to-result, we demonstrate confirmation of a hot-spot mutation from tumor tissue in ~52 minutes. To further reduce time, we explore rapid, targeted Loop-mediated Isothermal Amplification (LAMP) and design a bioinformatics tool—LAMPrey—to process sequenced LAMP product. LAMPrey’s concatemer aware alignment algorithm is designed to maximize recovery of diagnostically relevant information leading to a more rapid detection versus standard read alignment approaches. Using LAMPrey, we demonstrate confirmation of a hot-spot mutation (250x support) from tumor tissue in less than 30 minutes.