Todd J. Treangen

David Torres Ramos, Vihan Lakshman, Chen Luo et al.

We study the problem of building space-efficient, in-memory indexes for massive key-value datasets with highly skewed value distributions. This challenge arises in many data-intensive domains and is particularly acute in computational genomics, where $k$-mer count tables can contain billions of entries dominated by a single frequent value. While recent work has proposed to address this problem by augmenting compressed static functions (CSFs) with pre-filters, existing approaches rely on complex heuristics and lack formal guarantees. In this paper, we introduce a principled algorithm, called AutoCSF, for combining CSFs with pre-filtering to provably handle skewed distributions with near-optimal space usage. We improve upon prior CSF pre-filtering constructions by (1) deriving a mathematically rigorous decision criterion for when filter augmentation is beneficial; (2) presenting a general algorithmic framework for integrating CSFs with modern set membership data structures beyond the classic Bloom filter; and (3) establishing theoretical guarantees on the overall space usage of the resulting indexes. Our open-source implementation of AutoCSF demonstrates space savings over baseline methods while maintaining low query latency.

Ali Azizpour, Advait Balaji, Todd J. Treangen et al.

Repetitive DNA (repeats) poses significant challenges for accurate and efficient genome assembly and sequence alignment. This is particularly true for metagenomic data, where genome dynamics such as horizontal gene transfer, gene duplication, and gene loss/gain complicate accurate genome assembly from metagenomic communities. Detecting repeats is a crucial first step in overcoming these challenges. To address this issue, we propose GraSSRep, a novel approach that leverages the assembly graph's structure through graph neural networks (GNNs) within a self-supervised learning framework to classify DNA sequences into repetitive and non-repetitive categories. Specifically, we frame this problem as a node classification task within a metagenomic assembly graph. In a self-supervised fashion, we rely on a high-precision (but low-recall) heuristic to generate pseudo-labels for a small proportion of the nodes. We then use those pseudo-labels to train a GNN embedding and a random forest classifier to propagate the labels to the remaining nodes. In this way, GraSSRep combines sequencing features with pre-defined and learned graph features to achieve state-of-the-art performance in repeat detection. We evaluate our method using simulated and synthetic metagenomic datasets. The results on the simulated data highlight our GraSSRep's robustness to repeat attributes, demonstrating its effectiveness in handling the complexity of repeated sequences. Additionally, our experiments with synthetic metagenomic datasets reveal that incorporating the graph structure and the GNN enhances our detection performance. Finally, in comparative analyses, GraSSRep outperforms existing repeat detection tools with respect to precision and recall.

Gaurav Gupta, Minghao Yan, Benjamin Coleman et al.

Multiple Set Membership Testing (MSMT) is a well-known problem in a variety of search and query applications. Given a dataset of K different sets and a query q, it aims to find all of the sets containing the query. Trivially, an MSMT instance can be reduced to K membership testing instances, each with the same q, leading to O(K) query time with a simple array of Bloom Filters. We propose a data-structure called RAMBO (Repeated And Merged BloOm Filter) that achieves O(\sqrt{K} log K) query time in expectation with an additional worst-case memory cost factor of O(log K) beyond the array of Bloom Filters. Due to this, RAMBO is a very fast and accurate data-structure. Apart from being embarrassingly parallel, supporting cheap updates for streaming inputs, zero false-negative rate, and low false-positive rate, RAMBO beats the state-of-the-art approaches for genome indexing methods: COBS (Compact bit-sliced signature index), Sequence Bloom Trees (a Bloofi based implementation), HowDeSBT, SSBT, and document indexing methods like BitFunnel. The proposed data-structure is simply a count-min sketch type arrangement of a membership testing utility (Bloom Filter in our case). It indexes k-grams and provides an approximate membership testing based search utility. The simplicity of the algorithm and embarrassingly parallel architecture allows us to index a 170 TB genome dataset in a mere 14 hours on a cluster of 100 nodes while competing methods require weeks.