Pangenome graphs

JM Eizenga, AM Novak, JA Sibbesen… - Annual review of …, 2020 - annualreviews.org
Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …

Is it time to change the reference genome?

S Ballouz, A Dobin, JA Gillis - Genome biology, 2019 - Springer
The use of the human reference genome has shaped methods and data across modern
genomics. This has offered many benefits while creating a few constraints. In the following …

MONI: a pangenomic index for finding maximal exact matches

M Rossi, M Oliva, B Langmead, T Gagie… - Journal of …, 2022 - liebertpub.com
Recently, Gagie et al. proposed a version of the FM-index, called the r-index, that can store
thousands of human genomes on a commodity computer. Then Kuhnle et al. showed how to …

One is not enough: on the effects of reference genome for the mapping and subsequent analyses of short-reads

C Valiente-Mullor, B Beamud, I Ansari… - PLoS computational …, 2021 - journals.plos.org
Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome
is a frequently used approach in microbial genomics. However, the choice of a reference …

The genome atlas: navigating a new era of reference genomes

AM Kaye, WW Wasserman - Trends in Genetics, 2021 - cell.com
The reference genome serves two distinct purposes within the field of genomics. First, it
provides a persistent structure against which findings can be reported, allowing for universal …

deBGA: read alignment with de Bruijn graph-based seed and extension

B Liu, H Guo, M Brudno, Y Wang - Bioinformatics, 2016 - academic.oup.com
Motivation: As high-throughput sequencing (HTS) technology becomes ubiquitous and the
volume of data continues to rise, HTS read alignment is becoming increasingly rate-limiting …

Gramtools enables multiscale variation analysis with genome graphs

B Letcher, M Hunt, Z Iqbal - Genome biology, 2021 - Springer
Genome graphs allow very general representations of genetic variation; depending on the
model and implementation, variation at different length-scales (single nucleotide …

[HTML][HTML] Refining the r-index

H Bannai, T Gagie, I Tomohiro - Theoretical Computer Science, 2020 - Elsevier
Abstract Gagie, Navarro and Prezza's r-index (SODA, 2018) promises to speed up DNA
alignment and variation calling by allowing us to index entire genomic databases, provided …

[HTML][HTML] Efficient construction of a complete index for pan-genomics read alignment

A Kuhnle, T Mun, C Boucher, T Gagie… - Journal of …, 2020 - liebertpub.com
Short-read aligners predominantly use the FM-index, which is easily able to index one or a
few human genomes. However, it does not scale well to indexing collections of thousands of …

Systematic benchmark of ancient DNA read mapping

A Oliva, R Tobler, A Cooper, B Llamas… - Briefings in …, 2021 - academic.oup.com
The current standard practice for assembling individual genomes involves mapping millions
of short DNA sequences (also known as DNA 'reads') against a pre-constructed reference …