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Guidi, G.

Publications and source records attributed to Guidi, G..

2 recordsLinked to original sources

Sparse Linear Algebra Accelerates Genotype Representation Graph Computation at Biobank Scale

Biobank-scale genomic analyses are increasingly constrained by computational costs, as hundreds of thousands to millions of samples and variants must be analyzed together. The genotype representation graph (GRG) compactly encodes population genetic variation to accelerate computation, but the current approach does not exploit modern accelerator architectures. This work introduces Mikado, a new methodology for expressing GRG-based computation using sparse linear algebra primitives. Under a reverse topological ordering of the graph nodes, the GRG adjacency matrix is strictly block-lower-triangular, and the genotype matrix-vector product becomes a sparse triangular solve that can be further decomposed into a pipelined sequence of blocked sparse matrix-vector multiplies. By decoupling computation from graph representation, our approach exposes fine-grained parallelism and enables hardware-optimized sparse primitives on GPUs. Mikado achieves an order-of-magnitude speedup and cost savings for PCA and BOLT-LMM compared with the original GRG traversal approach, including on All of Us cohorts. It provides a scalable, hardware-portable, researcher-friendly tool for population genetics at biobank scale.

genomics↗

BELLA: Berkeley Efficient Long-Read to Long-Read Aligner and Overlapper

Recent advances in long-read sequencing enable the characterization of genome structure and its intra- and inter-species variation at a resolution that was previously impossible. Detecting overlaps between reads is integral to many long-read genomics pipelines, such as de novo genome assembly. While longer reads simplify genome assembly and improve the contiguity of the reconstruction, current long-read technologies come with high error rates. We present Berkeley Long-Read to Long-Read Aligner and Overlapper (BELLA), a novel algorithm for computing overlaps and alignments via sparse matrix-matrix multiplication that balances the goals of recall and precision, performing well on both. We present a probabilistic model that demonstrates the feasibility of using short k-mers for detecting candidate overlaps. We then introduce a notion of reliable k-mers based on our probabilistic model. Combining reliable k-mers with our binning mechanism eliminates both the k-mer set explosion that would otherwise occur with highly erroneous reads and the spurious overlaps from k-mers originating in repetitive regions. Finally, we present a new method based on Chernoff bounds for separating true overlaps from false positives using a combination of alignment techniques and probabilistic modeling. Our methodologies aim at maximizing the balance between precision and recall. On both real and synthetic data, BELLA performs amongst the best in terms of F1 score, showing performance stability which is often missing for competitor software. BELLAs F1 score is consistently within 1.7% of the top entry. Notably, we show improved de novo assembly results on synthetic data when coupling BELLA with the Miniasm assembler.

bioinformatics↗