Structural variation in the sequencing era

SS Ho, AE Urban, RE Mills - Nature Reviews Genetics, 2020 - nature.com
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

The third revolution in sequencing technology

EL Van Dijk, Y Jaszczyszyn, D Naquin, C Thermes - Trends in Genetics, 2018 - cell.com
Forty years ago the advent of Sanger sequencing was revolutionary as it allowed complete
genome sequences to be deciphered for the first time. A second revolution came when next …

YaHS: yet another Hi-C scaffolding tool

C Zhou, SA McCarthy, R Durbin - Bioinformatics, 2023 - academic.oup.com
We present YaHS, a user-friendly command-line tool for the construction of chromosome-
scale scaffolds from Hi-C data. It can be run with a single-line command, requires minimal …

Super-pangenome analyses highlight genomic diversity and structural variation across wild and cultivated tomato species

N Li, Q He, J Wang, B Wang, J Zhao, S Huang… - Nature Genetics, 2023 - nature.com
Effective utilization of wild relatives is key to overcoming challenges in genetic improvement
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …

Genome evolution and diversity of wild and cultivated potatoes

D Tang, Y Jia, J Zhang, H Li, L Cheng, P Wang, Z Bao… - Nature, 2022 - nature.com
Potato (Solanum tuberosum L.) is the world's most important non-cereal food crop, and the
vast majority of commercially grown cultivars are highly heterozygous tetraploids. Advances …

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 …

The Chinese pine genome and methylome unveil key features of conifer evolution

S Niu, J Li, W Bo, W Yang, A Zuccolo, S Giacomello… - Cell, 2022 - cell.com
Conifers dominate the world's forest ecosystems and are the most widely planted tree
species. Their giant and complex genomes present great challenges for assembling a …

Genomic innovation and regulatory rewiring during evolution of the cotton genus Gossypium

M Wang, J Li, Z Qi, Y Long, L Pei, X Huang… - Nature Genetics, 2022 - nature.com
Phenotypic diversity and evolutionary innovation ultimately trace to variation in genomic
sequence and rewiring of regulatory networks. Here, we constructed a pan-genome of the …

A telomere-to-telomere gap-free reference genome of watermelon and its mutation library provide important resources for gene discovery and breeding

Y Deng, S Liu, Y Zhang, J Tan, X Li, X Chu, B Xu… - Molecular plant, 2022 - cell.com
Watermelon, Citrullus lanatus, is the world's third largest fruit crop. Reference genomes with
gaps and a narrow genetic base hinder functional genomics and genetic improvement of …

Deeply conserved synteny and the evolution of metazoan chromosomes

O Simakov, J Bredeson, K Berkoff, F Marletaz… - Science …, 2022 - science.org
Animal genomes show networks of deeply conserved gene linkages whose phylogenetic
scope and chromosomal context remain unclear. Here, we report chromosome-scale …