When less is more: sketching with minimizers in genomics

M Ndiaye, S Prieto-Baños, LM Fitzgerald… - Genome biology, 2024 - Springer
The exponential increase in sequencing data calls for conceptual and computational
advances to extract useful biological insights. One such advance, minimizers, allows for …

Unveiling microbial diversity: harnessing long-read sequencing technology

DP Agustinho, Y Fu, VK Menon, GA Metcalf… - Nature …, 2024 - nature.com
Long-read sequencing has recently transformed metagenomics, enhancing strain-level
pathogen characterization, enabling accurate and complete metagenome-assembled …

Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement

PA Audano, CR Beck - Genome research, 2024 - genome.cshlp.org
High-quality genome assemblies and sophisticated algorithms have increased sensitivity for
a wide range of variant types, and breakpoint accuracy for structural variants (SVs,≥ 50 bp) …

Proving sequence aligners can guarantee accuracy in almost O (m log n) time through an average-case analysis of the seed-chain-extend heuristic

J Shaw, YW Yu - Genome Research, 2023 - genome.cshlp.org
Seed-chain-extend with k-mer seeds is a powerful heuristic technique for sequence
alignment used by modern sequence aligners. Although effective in practice for both runtime …

Block Aligner: an adaptive SIMD-accelerated aligner for sequences and position-specific scoring matrices

D Liu, M Steinegger - Bioinformatics, 2023 - academic.oup.com
Motivation Efficiently aligning sequences is a fundamental problem in bioinformatics. Many
recent algorithms for computing alignments through Smith–Waterman–Gotoh dynamic …

Sequence to graph alignment using gap-sensitive co-linear chaining

G Chandra, C Jain - … Conference on Research in Computational Molecular …, 2023 - Springer
Co-linear chaining is a widely used technique in sequence alignment tools that follow seed-
filter-extend methodology. It is a mathematically rigorous approach to combine short exact …

Complete mitochondrial genome of Agropyron cristatum reveals gene transfer and RNA editing events

T Ou, Z Wu, C Tian, Y Yang, Z Li - BMC Plant Biology, 2024 - Springer
Background As an important forage in arid and semi-arid regions, Agropyron cristatum
provides livestock with exceptionally high nutritional value. Additionally, A. cristatum exhibits …

ModDotPlot—rapid and interactive visualization of tandem repeats

AP Sweeten, MC Schatz, AM Phillippy - Bioinformatics, 2024 - academic.oup.com
Motivation A common method for analyzing genomic repeats is to produce a sequence
similarity matrix visualized via a dot plot. Innovative approaches such as StainedGlass have …

Entropy predicts sensitivity of pseudorandom seeds

BD Maier, K Sahlin - Genome Research, 2023 - genome.cshlp.org
Seed design is important for sequence similarity search applications such as read map**
and average nucleotide identity (ANI) estimation. Although k-mers and spaced k-mers are …

An FPGA-based hardware accelerator supporting sensitive sequence homology filtering with profile hidden Markov models

T Anderson, TJ Wheeler - BMC bioinformatics, 2024 - Springer
Background Sequence alignment lies at the heart of genome sequence annotation. While
the BLAST suite of alignment tools has long held an important role in alignment-based …