Technology dictates algorithms: recent developments in read alignment

M Alser, J Rotman, D Deshpande, K Taraszka, H Shi… - Genome biology, 2021 - Springer
Aligning sequencing reads onto a reference is an essential step of the majority of genomic
analysis pipelines. Computational algorithms for read alignment have evolved in …

Multiple genome alignment in the telomere-to-telomere assembly era

B Kille, A Balaji, FJ Sedlazeck, M Nute, TJ Treangen - Genome Biology, 2022 - Springer
With the arrival of telomere-to-telomere (T2T) assemblies of the human genome comes the
computational challenge of efficiently and accurately constructing multiple genome …

Telomere-to-telomere assembly of diploid chromosomes with Verkko

M Rautiainen, S Nurk, BP Walenz, GA Logsdon… - Nature …, 2023 - nature.com
Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …

New strategies to improve minimap2 alignment accuracy

H Li - Bioinformatics, 2021 - academic.oup.com
We present several recent improvements to minimap2, a versatile pairwise aligner for
nucleotide sequences. Now minimap2 v2. 22 can more accurately map long reads to highly …

Pangenomics enables genoty** of known structural variants in 5202 diverse genomes

J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga… - Science, 2021 - science.org
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Improved metagenomic analysis with Kraken 2

DE Wood, J Lu, B Langmead - Genome biology, 2019 - Springer
Although Kraken'sk-mer-based approach provides a fast taxonomic classification of
metagenomic sequence data, its large memory requirements can be limiting for some …

Long-read map** to repetitive reference sequences using Winnowmap2

C Jain, A Rhie, NF Hansen, S Koren, AM Phillippy - Nature Methods, 2022 - nature.com
Abstract Approximately 5–10% of the human genome remains inaccessible due to the
presence of repetitive sequences such as segmental duplications and tandem repeat arrays …

Versatile genome assembly evaluation with QUAST-LG

A Mikheenko, A Prjibelski, V Saveliev, D Antipov… - …, 2018 - academic.oup.com
Motivation The emergence of high-throughput sequencing technologies revolutionized
genomics in early 2000s. The next revolution came with the era of long-read sequencing …

Minimap2: pairwise alignment for nucleotide sequences

H Li - Bioinformatics, 2018 - academic.oup.com
Motivation Recent advances in sequencing technologies promise ultra-long reads of∼ 100
kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs …

High-quality metagenome assembly from long accurate reads with metaMDBG

G Benoit, S Raguideau, R James, AM Phillippy… - Nature …, 2024 - nature.com
We introduce metaMDBG, a metagenomics assembler for PacBio HiFi reads. MetaMDBG
combines a de Bruijn graph assembly in a minimizer space with an iterative assembly over …