Piercing the dark matter: bioinformatics of long-range sequencing and mapping

FJ Sedlazeck, H Lee, CA Darby, MC Schatz - Nature Reviews Genetics, 2018 - nature.com
Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

Third-generation sequencing and the future of genomics

H Lee, J Gurtowski, S Yoo, M Nattestad, S Marcus… - BioRxiv, 2016 - biorxiv.org
Third-generation long-range DNA sequencing and mapping technologies are creating a
renaissance in high-quality genome sequencing. Unlike second-generation sequencing …

Towards population-scale long-read sequencing

W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

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 …

Coming of age: ten years of next-generation sequencing technologies

S Goodwin, JD McPherson, WR McCombie - Nature reviews genetics, 2016 - nature.com
Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

A framework for variation discovery and genotyping using next-generation DNA sequencing data

MA DePristo, E Banks, R Poplin, KV Garimella… - Nature …, 2011 - nature.com
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …

Evaluation of next-generation sequencing software in mapping and assembly

S Bao, R Jiang, WK Kwan, BB Wang, X Ma… - Journal of human …, 2011 - nature.com
Next-generation high-throughput DNA sequencing technologies have advanced
progressively in sequence-based genomic research and novel biological applications with …

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 …

The impact of next-generation sequencing technology on genetics

ER Mardis - Trends in genetics, 2008 - cell.com
If one accepts that the fundamental pursuit of genetics is to determine the genotypes that
explain phenotypes, the meteoric increase of DNA sequence information applied toward that …

Next-generation sequencing strategies

SE Levy, BE Boone - Cold Spring Harbor …, 2019 - perspectivesinmedicine.cshlp.org
More than a decade ago, the term “next-generation” sequencing was coined to describe
what was, at the time, revolutionary new methods to sequence RNA and DNA at a faster …