10 papers · ranked by Valyu relevance
Hiruna Samarakoon, James M. Ferguson, Sasha P. Jenner, Timothy G. Amos + 3 more
Nanopore sequencing is an emerging technology that is being rapidly adopted in research and clinical genomics. We recently developed SLOW5, a new file format for storage and analysis of raw data from nanopore sequencing experiments. SLOW5 is a community-centric, open source format that offers considerable performance…
Bo Xu, Lun Li, Cuiping Li, Anke Wang + 2 more
This note announces HaploThread, a user-friendly GUI desktop software designed for haplotype network construction and visualization. HaploThread is written in C++ using the Qt library, integrating network visualization and multiple multi-threaded haplotype construction algorithms such as McAN and fastHaN (includes MSN…
Peiyu Zong, Wenpeng Deng, Jian Liu, Jue Ruan
The rapid advancements in sequencing length necessitate the adoption of increasingly efficient sequence alignment algorithms. The Needleman-Wunsch method introduces the foundational dynamic programming (DP) matrix calculation for global alignment, which evaluates the overall alignment of sequences. However, this method…
Ge Zhang
bcftools is the standard toolkit for handling VCF and BCF variant files, but it processes records on a single core; its --threads option speeds up only compression of the output, not the work done on variant records. Processing large call sets is therefore slow, and users often divide the genome and reassemble the…
Marissa E. Powers, Keith Mannthey, Priyanka Sebastian, Snehal Adsule + 6 more
Next Generation Sequencing (NGS) workloads largely consist of pipelines of tasks with heterogeneous compute, memory, and storage requirements. Identifying the optimal system configuration has historically required expertise in both system architecture and bioinformatics. This paper outlines infrastructure…
Shumpei Morita, Jay T. Groves
T cells can recognize a few molecules of cognate antigen amongst vastly outnumbering non-cognate ligands. The T cell receptor (TCR) differentiates antigens based on antigen-TCR binding dwell time through a kinetic proofreading process. Historically, this has been modeled as the ligated receptor undergoing a series of…
Vikram S. Shivakumar, Ben Langmead
Pangenome collections are growing to hundreds of high-quality genomes. This necessitates scalable methods for constructing pangenome alignments that can incorporate newly-sequenced assemblies. We previously developed Mumemto, which computes maximal unique matches (multi-MUMs) across pangenomes using compressed…
Haoyu Chao, Ming Chen
High-throughput sequencing technologies (Next Generation Sequencing; NGS) are increasingly utilized by researchers to tackle a diverse array of biological inquiries. Leveraging the remarkable scale and efficiency of modern sequencing, significant advancements are made across various fields, spanning from genome…
Xinwei Zhao, Eberhard Korsching
DNA and RNA nucleotide sequences are ubiquitous in all biological cells, serving as both a comprehensive library of capabilities for the cells and as an impressive regulatory system to control cellular function. The multi-alignment framework (MAF) provided in this study offers a user-friendly platform for sequence…
Árni Freyr Gunnarsson, Jiazheng Zhu, Brian C. Zhang, Zoi Tsangalidou + 2 more
The ancestral recombination graph (ARG) is a graph-like structure that encodes a detailed genealogical history of a set of individuals along the genome. ARGs that are accurately reconstructed from genomic data have several downstream applications, but inference from data sets comprising millions of samples and variants…