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Zhao, M. X.

Publications and source records attributed to Zhao, M. X..

3 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↗

mehari: high-performance, strict HGVS-first variant effect prediction

Variant annotation requires the precise and consistent computation of Sequence Ontology (SO) terms and Human Genome Variation Society (HGVS) nomenclature. To ensure robust synchronization between these two key facets, we present mehari, a high-performance variant effect predictor implemented in Rust that employs a strict "HGVS-first" approach. By deterministically projecting variants to transcripts before evaluating functional consequences, mehari structurally aligns HGVS notation and SO terms. Benchmarking on ClinVar demonstrates that mehari achieves exceptional processing speeds and high concordance with established tools like Ensembl VEP, while also providing refined handling for complex biological edge cases such as selenoprotein recoding.

bioinformatics↗

Fungi.guru: comparative genomic and transcriptomic database for the Fungi kingdom

The fungi kingdom is composed of eukaryotic heterotrophs, which are responsible for balancing the ecosystem and play a major role as decomposers. They also produce a vast diversity of secondary metabolites, which have antibiotic or pharmacological properties. However, our lack of knowledge of gene function in fungi precludes us from tailoring them to our needs and tapping into their metabolic diversity. To remedy this, we gathered genomic and gene expression data of 19 most widely-researched fungi to build a database, fungi.guru, which contains tools for cross-species identification of conserved pathways, functional gene modules, and gene families. We exemplify how our database can elucidate the molecular function, biological process and cellular component of genes involved in various biological processes, by identifying a secondary metabolite pathway producing gliotoxin in Aspergillus fumigatus, the catabolic pathway of cellulose in Coprinopsis cinerea and the conserved DNA replication pathway in Fusarium graminearum and Pyricularia oryzae. The database is available at www.fungi.guru.

bioinformatics↗