The Human Pangenome Project: a global resource to map genomic diversity

T Wang, L Antonacci-Fulton, K Howe, HA Lawson… - Nature, 2022 - nature.com
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

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 …

Pangenomics enables genotyping 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 …

Plotsr: visualizing structural similarities and rearrangements between multiple genomes

M Goel, K Schneeberger - Bioinformatics, 2022 - academic.oup.com
Third-generation genome sequencing technologies have led to a sharp increase in the
number of high-quality genome assemblies. This allows the comparison of multiple …

ODGI: understanding pangenome graphs

A Guarracino, S Heumos, S Nahnsen, P Prins… - …, 2022 - academic.oup.com
Motivation Pangenome graphs provide a complete representation of the mutual alignment of
collections of genomes. These models offer the opportunity to study the entire genomic …

Plant pan-genomics comes of age

L Lei, E Goltsman, D Goodstein, GA Wu… - Annual Review of …, 2021 - annualreviews.org
A pan-genome is the nonredundant collection of genes and/or DNA sequences in a species.
Numerous studies have shown that plant pan-genomes are typically much larger than the …

Graph-based pan-genomes: increased opportunities in plant genomics

S Wang, YQ Qian, RP Zhao, LL Chen… - Journal of …, 2023 - academic.oup.com
Due to the development of sequencing technology and the great reduction in sequencing
costs, an increasing number of plant genomes have been assembled, and numerous …

Envisioning a new era: complete genetic information from routine, telomere-to-telomere genomes

KH Miga, EE Eichler - The American Journal of Human Genetics, 2023 - cell.com
Advances in long-read sequencing and assembly now mean that individual labs can
generate phased genomes that are more accurate and more contiguous than the original …

Pangenomics in crop improvement—from coding structural variations to finding regulatory variants with pangenome graphs

SF Zanini, PE Bayer, R Wells, RJ Snowdon… - The plant …, 2022 - Wiley Online Library
Since the first reported crop pangenome in 2014, advances in high‐throughput and cost‐
effective DNA sequencing technologies facilitated multiple such studies including the …

Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph

R Martiniano, E Garrison, ER Jones, A Manica… - Genome biology, 2020 - Springer
Background During the last decade, the analysis of ancient DNA (aDNA) sequence has
become a powerful tool for the study of past human populations. However, the degraded …