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 …

Human pangenomics: promises and challenges of a distributed genomic reference

P Abondio, E Cilli, D Luiselli - Life, 2023 - mdpi.com
A pangenome is a collection of the common and unique genomes that are present in a given
species. It combines the genetic information of all the genomes sampled, resulting in a large …

PanKmer: k-mer-based and reference-free pangenome analysis

AJ Aylward, S Petrus, A Mamerto, NT Hartwick… - …, 2023 - academic.oup.com
Pangenomes are replacing single reference genomes as the definitive representation of
DNA sequence within a species or clade. Pangenome analysis predominantly leverages …

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 …

A unifying taxonomy of pattern matching in degenerate strings and founder graphs

R Ascone, G Bernardini, A Conte, M Equi… - WABI 2024-Workshop …, 2024 - inria.hal.science
Elastic Degenerate (ED) strings and Elastic Founder (EF) graphs are two versions of acyclic
components of pangenomes. Both ED strings and EF graphs (which we collectively name …

[图书][B] Genome-scale algorithm design: bioinformatics in the era of high-throughput sequencing

V Mäkinen, D Belazzougui, F Cunial, AI Tomescu - 2023 - books.google.com
Presenting the fundamental algorithms and data structures that power bioinformatics
workflows, this book covers a range of topics from the foundations of sequence analysis …

Gap-sensitive colinear chaining algorithms for acyclic pangenome graphs

G Chandra, C Jain - Journal of Computational Biology, 2023 - liebertpub.com
A pangenome graph can serve as a better reference for genomic studies because it allows a
compact representation of multiple genomes within a species. Aligning sequences to a …

Constructing and personalizing population pangenome graphs

R Chikhi, Y Dufresne, P Medvedev - Nature Methods, 2024 - nature.com
Constructing and personalizing population pangenome graphs | Nature Methods Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

μ-PBWT: a lightweight r-indexing of the PBWT for storing and querying UK Biobank data

D Cozzi, M Rossi, S Rubinacci, T Gagie, D Köppl… - …, 2023 - academic.oup.com
Abstract Motivation The Positional Burrows–Wheeler Transform (PBWT) is a data structure
that indexes haplotype sequences in a manner that enables finding maximal haplotype …

Seven quick tips for gene-focused computational pangenomic analysis

V Bonnici, D Chicco - BioData Mining, 2024 - Springer
Pangenomics is a relatively new scientific field which investigates the union of all the
genomes of a clade. The word pan means everything in ancient Greek; the term …