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Okcu, T.

Publications and source records attributed to Okcu, T..

2 recordsLinked to original sources

Toward space-optimal approximate colored indexes at scale

Searching current petabase-scale sequence repositories requires indexes that combine compact storage with high query throughput. Although exact colored indexes retain complete sequence information, their construction and storage costs can become substantial for highly diverse collections. Indexes based on approximate membership query (AMQ) filters offer a compact alternative with fast construction and queries. Being hash-based, these indexes support different seeding schemes without structural changes, while sampling can reduce storage requirements, construction time and query time by an order of magnitude. Within the AMQ framework, querying many independent filters causes scattered memory accesses, reducing throughput. This motivates interleaved filters, which address this weakness by storing filter slots contiguously by position, enabling cache-friendly access and simultaneous membership queries. However, existing implementations face a trade-off between guaranteed construction and space-efficiency. Here, we introduce a new indexing framework based on interleaved ZOR filters, fingerprint-based structures with guaranteed construction that require only approximately 1% more space than the theoretical minimum for AMQ. To exploit redundancy between genomes, we introduce a color-preserving merging mechanism that extends fingerprints with membership bits, allowing multiple genomes to share a filter while retaining their individual identities. Together with a lightweight, sketch-based layout planner, this mechanism yields a compact index structure that accommodates collections with widely varying genome sizes and degrees of similarity. Our third contribution extends the AMQ framework beyond contiguous -mers through a low-density minimizer scheme alongside efficient implementations of sensitive seeds, including gapped -mers and randstrobes. We implement these methods in Zindex, a parallel, SIMD-accelerated Rust index that scales to millions of genomes while supporting diverse seeding and sampling schemes. Zindex indexes the latest RefSeq release of 564,401 assembled genomes in under 22 hours, producing a 289.5 GB index. It further scales to all 2,763,297 genomes of AllTheBacteria, producing a 406.3 GB index in four days with a peak memory footprint of 43.8 GB. Availability. Zindex is available at https://github.com/Malfoy/Zindex

bioinformatics↗

Robust software development practices improve citations of RNA-seq tools

RNA sequencing (RNA-seq) has emerged as an exemplary technology in biology and clinical applications, offering a crucial complement to other transcriptomic profiling protocols due to its high sensitivity, precision, and accuracy in characterizing transcriptomes. However, the rapid proliferation of RNA-seq tools necessitates the adoption of robust software development practices. Such development underscores the critical need to examine how RNA-seq tools are developed, maintained, and distributed; and whether the data they generate is reproducible as all of these factors are essential for ensuring software reliability, transparency, and trust in scientific findings. We conducted a comprehensive assessment of 434 RNA-seq tools developed between 2008 and 2024, categorizing them based on the type of analysis they perform. Our evaluation encompassed their software development and distribution methodologies, as well as the attributes contributing to their widespread adoption and dependability within the biomedical community, which were quantified by factors such as package manager availability, containerization, multithreading support, documentation quality, and inclusion of example datasets. Our findings establish the first documented positive association between rigorous software development practices and their adoption of published RNA-seq tools as measured by citations (Mann-Whitney U test, p-value = 4.9 x 10-26). By identifying key characteristics of widely adopted software, our findings guide developing robust and user-friendly RNA-seq tools, thereby reinforcing the call for rigorous community-wide standards.

bioinformatics↗