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 …
genome sequences to be deciphered for the first time. A second revolution came when next …
[HTML][HTML] DNA sequencing at 40: past, present and future
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 …
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
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 …
serve as standards of annotation achieved through a tremendous investment of human …
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool …
reference genomes, making validation challenging. Here we present Merqury, a novel tool …
De novo assembly of the cattle reference genome with single-molecule sequencing
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 …
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
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 …
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 …
available to the entire scientific community without restrictions. Ensembl seeks to be a …
Purge Haplotigs: allelic contig reassignment for third-gen diploid genome assemblies
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 …
assemblers have resulted in the rapid release of numerous reference-quality assemblies for …
[HTML][HTML] Assembly of allele-aware, chromosomal-scale autopolyploid genomes based on Hi-C data
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 …
'Platinum'genome, but it remains a major challenge to assemble and anchor sequences to …
[HTML][HTML] 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 …
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …