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 …
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
S Ardui, A Ameur, JR Vermeesch… - Nucleic acids …, 2018 - academic.oup.com
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the
medical setting. However, short read technologies have inherent limitations such as GC …
medical setting. However, short read technologies have inherent limitations such as GC …
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …
or less-accurate long reads. We report the optimization of circular consensus sequencing …
[HTML][HTML] Long-read sequencing emerging in medical genetics
T Mantere, S Kersten, A Hoischen - Frontiers in genetics, 2019 - frontiersin.org
The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …
revolutionized the field of medical genetics. However, the short read lengths of currently …
Genomics in the long-read sequencing era
EL van Dijk, D Naquin, K Gorrichon, Y Jaszczyszyn… - Trends in Genetics, 2023 - cell.com
Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …
explore genomes. While in the early years these methods suffered technical limitations, they …
Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation
Long-read single-molecule sequencing has revolutionized de novo genome assembly and
enabled the automated reconstruction of reference-quality genomes. However, given the …
enabled the automated reconstruction of reference-quality genomes. However, given the …
[HTML][HTML] Long walk to genomics: History and current approaches to genome sequencing and assembly
Genomes represent the starting point of genetic studies. Since the discovery of DNA
structure, scientists have devoted great efforts to determine their sequence in an exact way …
structure, scientists have devoted great efforts to determine their sequence in an exact way …
Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …
PacBio sequencing and its applications
A Rhoads, KF Au - Genomics, Proteomics and Bioinformatics, 2015 - academic.oup.com
Single-molecule, real-time sequencing developed by Pacific BioSciences offers longer read
lengths than the second-generation sequencing (SGS) technologies, making it well-suited …
lengths than the second-generation sequencing (SGS) technologies, making it well-suited …