Paper ID: 2410.06188

Beyond the Alphabet: Deep Signal Embedding for Enhanced DNA Clustering

Hadas Abraham, Barak Gahtan, Adir Kobovich, Orian Leitersdorf, Alex M. Bronstein, Eitan Yaakobi

The emerging field of DNA storage employs strands of DNA bases (A/T/C/G) as a storage medium for digital information to enable massive density and durability. The DNA storage pipeline includes: (1) encoding the raw data into sequences of DNA bases; (2) synthesizing the sequences as DNA \textit{strands} that are stored over time as an unordered set; (3) sequencing the DNA strands to generate DNA \textit{reads}; and (4) deducing the original data. The DNA synthesis and sequencing stages each generate several independent error-prone duplicates of each strand which are then utilized in the final stage to reconstruct the best estimate for the original strand. Specifically, the reads are first \textit{clustered} into groups likely originating from the same strand (based on their similarity to each other), and then each group approximates the strand that led to the reads of that group. This work improves the DNA clustering stage by embedding it as part of the DNA sequencing. Traditional DNA storage solutions begin after the DNA sequencing process generates discrete DNA reads (A/T/C/G), yet we identify that there is untapped potential in using the raw signals generated by the Nanopore DNA sequencing machine before they are discretized into bases, a process known as \textit{basecalling}, which is done using a deep neural network. We propose a deep neural network that clusters these signals directly, demonstrating superior accuracy, and reduced computation times compared to current approaches that cluster after basecalling.

Submitted: Oct 8, 2024