In this paper, we describe our vision to accelerate algorithms in the domain of genomic data analysis by proposing a framework called Genesis (genome analysis) that contains an interface and an implementation of a system that processes genomic data efficiently. This framework can be deployed in the cloud and exploit the FPGAs-as-a-service paradigm to provide cost-efficient secondary DNA analysis. We propose conceptualizing genomic reads and associated read attributes as a very large relational database and using extended SQL as a domain-specific language to construct queries that form various data manipulation operations. To accelerate such queries, we design a Genesis hardware library which consists of primitive hardware modules that can be composed to construct a dataflow architecture specialized for those queries. As a proof of concept for the Genesis framework, we present the architecture and the hardware implementation of several genomic analysis stages in the secondary analysis pipeline corresponding to the best known software analysis toolkit, GATK4 workflow proposed by the Broad Institute. We walk through the construction of genomic data analysis operations using a sequence of SQL-style queries and show how Genesis hardware library modules can be utilized to construct the hardware pipelines designed to accelerate such queries. We exploit parallelism and data reuse by utilizing a dataflow architecture along with the use of on-chip scratchpads as well as non-blocking APIs to manage the accelerators, allowing concurrent execution of the accelerator and the host. Our accelerated system deployed on the cloud FPGA performs up to 19.3× better than GATK4 running on a commodity multi-core Xeon server and obtains up to 15× better cost savings. We believe that if a software algorithm can be mapped onto a hardware library to utilize the underlying accelerator(s) using an already-standardized software interface such as SQL, while allowing the efficient mapping of such interface to primitive hardware modules as we have demonstrated here, it will expedite the acceleration of domainspecific algorithms and allow the easy adaptation of algorithm changes.

The amount of data being generated in genomics is predicted to be between 2 and 40 exabytes per year for the next decade, making genomic analysis the new frontier and the new challenge for precision medicine. This paper explores targeted deployment of hardware accelerators in the cloud to improve the runtime and throughput of immensescale genomic data analyses. In particular, INDEL (INsertion/DELetion) realignment is a critical operation that enables diagnostic testings of cancer through error correction prior to variant calling. It is the slowest part of the somatic (cancer) genomic analysis pipeline, the alignment refinement pipeline, and represents roughly one-third of the execution time of timesensitive diagnostics for acute cancer patients. To accelerate genomic analysis, this paper describes a hardware accelerator for INDEL realignment (IR), and a hardware-software framework leveraging FPGAs-as-a-service in the cloud. We chose to implement genomics analytics on FPGAs because genomic algorithms are still rapidly evolving (e.g. the de facto standard “GATK Best Practices” has had five releases since January of this year). We chose to deploy genomics accelerators in the cloud to reduce capital expenditure and to provide a more quantitative performance and cost analysis. We built and deployed a sea of IR accelerators using our hardware-software accelerator development framework on AWS EC2 F1 instances. We show that our IR accelerator system performed 81× better than multi-threaded genomic analysis software while being 32× more cost efficient.