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, in order 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.

Despite recent improvements in nanopore basecalling accuracy, germline variant calling of small insertions and deletions (INDELs) remains poor. Although precision and recall for single nucleotide polymorphisms (SNPs) now exceeds 99.5%, INDEL recall remains below 80% for standard R9.4.1 flow cells. We show that read phasing and realignment can recover a significant portion of false negative INDELs. In particular, we extend Needleman-Wunsch affine gap alignment by introducing new gap penalties for more accurately aligning repeated n-polymer sequences such as homopolymers ([Formula: see text]) and tandem repeats ([Formula: see text]). At the same precision, haplotype phasing improves INDEL recall from 63.76 to [Formula: see text] and nPoRe realignment improves it further to [Formula: see text].

Over the last decade, advances in high-throughput sequencing and the availability of portable sequencers have enabled fast and cheap access to genetic data. For a given sample, sequencers typically output fragments of the DNA in the sample. Depending on the sequencing technology, the fragments range from a length of 150-250 at high accuracy to lengths in few tens of thousands but at much lower accuracy. Sequencing data is now being produced at a rate that far outpaces Moore's law and poses significant computational challenges on commodity hardware. To meet this demand, software tools have been extensively redesigned and new algorithms and custom hardware have been developed to deal with the diversity in sequencing data. However, a standard set of benchmarks that captures the diverse behaviors of these recent algorithms and can facilitate future architectural exploration is lacking. To that end, we present the GenomicsBench benchmark suite which contains 12 computationally intensive data-parallel kernels drawn from popular bioinformatics software tools. It covers the major steps in short and long-read genome sequence analysis pipelines such as basecalling, sequence mapping, de-novo assembly, variant calling and polishing. We observe that while these genomics kernels have abundant data level parallelism, it is often hard to exploit on commodity processors because of input-dependent irregularities. We also perform a detailed microarchitectural characterization of these kernels and identify their bottlenecks. GenomicsBench includes parallel versions of the source code with CPU and GPU implementations as applicable along with representative input datasets of two sizes - small and large.

The MinION is a recent-to-market handheld nanopore sequencer. It can be used to determine the whole genome of a target virus in a biological sample. Its Read Until feature allows us to skip sequencing a majority of non-target reads (DNA/RNA fragments), which constitutes more than 99% of all reads in a typical sample. However, it does not have any on-board computing, which significantly limits its portability.