Alignment-free sequence comparison: benefits, applications, and tools

A Zielezinski, S Vinga, J Almeida, WM Karlowski - Genome biology, 2017 - Springer
Alignment-free sequence analyses have been applied to problems ranging from whole-
genome phylogeny to the classification of protein families, identification of horizontally …

Navigating bottlenecks and trade-offs in genomic data analysis

B Berger, YW Yu - Nature Reviews Genetics, 2023 - nature.com
Genome sequencing and analysis allow researchers to decode the functional information
hidden in DNA sequences as well as to study cell to cell variation within a cell population …

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

J Ebler, P Ebert, WE Clarke, T Rausch, PA Audano… - Nature …, 2022 - nature.com
Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

Population sequencing reveals clonal diversity and ancestral inbreeding in the grapevine cultivar Chardonnay

MJ Roach, DL Johnson, J Bohlmann… - PLoS …, 2018 - journals.plos.org
Chardonnay is the basis of some of the world's most iconic wines and its success is
underpinned by a historic program of clonal selection. There are numerous clones of …

Fast and accurate metagenotyping of the human gut microbiome with GT-Pro

ZJ Shi, B Dimitrov, C Zhao, S Nayfach… - Nature …, 2022 - nature.com
Single nucleotide polymorphisms (SNPs) in metagenomics are used to quantify population
structure, track strains and identify genetic determinants of microbial phenotypes. However …

Theory of local k-mer selection with applications to long-read alignment

J Shaw, YW Yu - Bioinformatics, 2022 - academic.oup.com
Motivation Selecting a subset of k-mers in a string in a local manner is a common task in
bioinformatics tools for speeding up computation. Arguably the most well-known and …

[PDF][PDF] Pitfalls of genotyping microbial communities with rapidly growing genome collections

C Zhao, ZJ Shi, KS Pollard - Cell Systems, 2023 - cell.com
Detecting genetic variants in metagenomic data is a priority for understanding the evolution,
ecology, and functional characteristics of microbial communities. Many tools that perform this …

ntCard: a streaming algorithm for cardinality estimation in genomics data

H Mohamadi, H Khan, I Birol - Bioinformatics, 2017 - academic.oup.com
Motivation Many bioinformatics algorithms are designed for the analysis of sequences of
some uniform length, conventionally referred to as k-mers. These include de Bruijn graph …

Simplitigs as an efficient and scalable representation of de Bruijn graphs

K Břinda, M Baym, G Kucherov - Genome biology, 2021 - Springer
Abstract de Bruijn graphs play an essential role in bioinformatics, yet they lack a universal
scalable representation. Here, we introduce simplitigs as a compact, efficient, and scalable …

DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition

J Audoux, N Philippe, R Chikhi, M Salson, M Gallopin… - Genome biology, 2017 - Springer
We introduce ak-mer-based computational protocol, DE-kupl, for capturing local RNA
variation in a set of RNA-seq libraries, independently of a reference genome or …