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 …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

BRAKER2: automatic eukaryotic genome annotation with GeneMark-EP+ and AUGUSTUS supported by a protein database

T Brůna, KJ Hoff, A Lomsadze, M Stanke… - NAR genomics and …, 2021 - academic.oup.com
The task of eukaryotic genome annotation remains challenging. Only a few genomes could
serve as standards of annotation achieved through a tremendous investment of human …

[HTML][HTML] Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

A Rhie, BP Walenz, S Koren, AM Phillippy - Genome biology, 2020 - Springer
Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool …

De novo assembly of the cattle reference genome with single-molecule sequencing

BD Rosen, DM Bickhart, RD Schnabel, S Koren… - …, 2020 - academic.oup.com
Background Major advances in selection progress for cattle have been made following the
introduction of genomic tools over the past 10–12 years. These tools depend upon the Bos …

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

S Nurk, BP Walenz, A Rhie, MR Vollger… - Genome …, 2020 - genome.cshlp.org
Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …

Ensembl 2019

F Cunningham, P Achuthan, W Akanni… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …

Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing

AS Deshpande, N Ulahannan, M Pendleton… - Nature …, 2022 - nature.com
Abstract High-order three-dimensional (3D) interactions between more than two genomic
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …

Assembly of allele-aware, chromosomal-scale autopolyploid genomes based on Hi-C data

X Zhang, S Zhang, Q Zhao, R Ming, H Tang - Nature plants, 2019 - nature.com
Construction of chromosome-level assembly is a vital step in achieving the goal of a
'Platinum'genome, but it remains a major challenge to assemble and anchor sequences to …

[HTML][HTML] Purge Haplotigs: allelic contig reassignment for third-gen diploid genome assemblies

MJ Roach, SA Schmidt, AR Borneman - BMC bioinformatics, 2018 - Springer
Background Recent developments in third-gen long read sequencing and diploid-aware
assemblers have resulted in the rapid release of numerous reference-quality assemblies for …