Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases

OK Tørresen, B Star, P Mier… - Nucleic acids …, 2019 - academic.oup.com
The widespread occurrence of repetitive stretches of DNA in genomes of organisms across
the tree of life imposes fundamental challenges for sequencing, genome assembly, and …

A roadmap for understanding the evolutionary significance of structural genomic variation

C Mérot, RA Oomen, A Tigano… - Trends in Ecology & …, 2020 - cell.com
Structural genomic variants (SVs) are ubiquitous and play a major role in adaptation and
speciation. Yet, comparative and population genomics have focused predominantly on gene …

SyRI: finding genomic rearrangements and local sequence differences from whole-genome assemblies

M Goel, H Sun, WB Jiao, K Schneeberger - Genome biology, 2019 - Springer
Genomic differences range from single nucleotide differences to complex structural
variations. Current methods typically annotate sequence differences ranging from SNPs to …

A high-quality apple genome assembly reveals the association of a retrotransposon and red fruit colour

L Zhang, J Hu, X Han, J Li, Y Gao, CM Richards… - Nature …, 2019 - nature.com
A complete and accurate genome sequence provides a fundamental tool for functional
genomics and DNA-informed breeding. Here, we assemble a high-quality genome (contig …

XSEDE: accelerating scientific discovery

J Towns, T Cockerill, M Dahan, I Foster… - … in science & …, 2014 - ieeexplore.ieee.org
Computing in science and engineering is now ubiquitous: digital technologies underpin,
accelerate, and enable new, even transformational, research in all domains. Access to an …

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 …

[HTML][HTML] Population-scale long-read sequencing uncovers transposable elements associated with gene expression variation and adaptive signatures in Drosophila

GE Rech, S Radío, S Guirao-Rico, L Aguilera… - Nature …, 2022 - nature.com
High quality reference genomes are crucial to understanding genome function, structure and
evolution. The availability of reference genomes has allowed us to start inferring the role of …

[PDF][PDF] Going beyond SNPs: The role of structural genomic variants in adaptive evolution and species diversification.

M Wellenreuther, C Mérot, E Berdan… - Molecular ecology, 2019 - bio.ulaval.ca
Although single‐nucleotide polymorphism (SNPs) were initially thought to make‐up the
majority of selectable variation (Morin, Luikart, & Wayne, 2004; Sachidanandam et al …

Discovery and population genomics of structural variation in a songbird genus

MH Weissensteiner, I Bunikis, A Catalán… - Nature …, 2020 - nature.com
Structural variation (SV) constitutes an important type of genetic mutations providing the raw
material for evolution. Here, we uncover the genome-wide spectrum of intra-and interspecific …

Demography and its effects on genomic variation in crop domestication

BS Gaut, DK Seymour, Q Liu, Y Zhou - Nature plants, 2018 - nature.com
Over two thousand plant species have been modified morphologically through cultivation
and human use. Here, we review three aspects of crop domestication that are currently …