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Blaauw, D.

Publications and source records attributed to Blaauw, D..

2 recordsLinked to original sources

Real-Time, Direct Classification of Nanopore Signals with SquiggleNet

Oxford Nanopore sequencers provide results in real time as DNA passes through a nanopore and can eject a molecule after it has been partly sequenced. However, the computational challenge of deciding whether to keep or reject a molecule in real time has limited the application of this capability. We present SquiggleNet, the first deep learning model that can classify nanopore reads directly from their electrical signals. SquiggleNet operates faster than the DNA passes through the pore, allowing real-time classification and read ejection. When given the amount of sequencing data generated in one second, the classifier achieves significantly higher accuracy than base calling followed by sequence alignment. Our approach is also faster and requires an order of magnitude less memory than approaches based on alignment. SquiggleNet distinguished human from bacterial DNA with over 90% accuracy, generalized to unseen species, identified bacterial species in a human respiratory meta genome sample, and accurately classified sequences containing human long interspersed repeat elements.

bioinformatics

Accelerating Maximal-Exact-Match Seeding with Enumerated Radix Trees

MotivationRead alignment is a time-consuming step in genome sequence analysis. In the read alignment software BWA-MEM and the recently published faster version BWA-MEM2, the seeding step is a major bottleneck, for instance, contributing 38% to the overall execution time in BWA-MEM2 when aligning single-end whole human genome reads from the Platinum Genomes dataset. This is because both BWA-MEM and BWA-MEM2 use a compressed index structure called the FMD-Index, which results in high memory bandwidth requirements for seeding, primarily due to its character-by-character processing of reads. ResultsWe propose a memory bandwidth-aware data structure for maximal-exact-match seeding called Enumerated Radix Tree (ERT). ERT trades off memory capacity to improve seeding performance ([~]60 GB index for human genome). Together with optimizations to the seeding algorithm and mate-rescue step, ERT when integrated into BWA-MEM2 speeds up overall read alignment by 1.28x and provides up to 2.1x higher seeding performance while guaranteeing identical output to the original software. Furthermore, we prototype an FPGA implementation of ERT on Amazon EC2 F1 cloud and observe 1.6x higher seeding throughput over a 48-thread optimized CPU-ERT implementation. Availability and implementationhttps://github.com/arun-sub/bwa-mem2 Contactarunsub@umich.edu, reetudas@umich.edu

bioinformatics