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 …

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 …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

Drivers and dynamics of a massive adaptive radiation in cichlid fishes

F Ronco, M Matschiner, A Böhne, A Boila, HH Büscher… - Nature, 2021 - nature.com
Adaptive radiation is the likely source of much of the ecological and morphological diversity
of life,,–. How adaptive radiations proceed and what determines their extent remains unclear …

[HTML][HTML] Unicycler: resolving bacterial genome assemblies from short and long sequencing reads

RR Wick, LM Judd, CL Gorrie… - PLoS computational …, 2017 - journals.plos.org
The Illumina DNA sequencing platform generates accurate but short reads, which can be
used to produce accurate but fragmented genome assemblies. Pacific Biosciences and …

Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation

S Koren, BP Walenz, K Berlin, JR Miller… - Genome …, 2017 - genome.cshlp.org
Long-read single-molecule sequencing has revolutionized de novo genome assembly and
enabled the automated reconstruction of reference-quality genomes. However, given the …

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 …

metaSPAdes: a new versatile metagenomic assembler

S Nurk, D Meleshko, A Korobeynikov… - Genome …, 2017 - genome.cshlp.org
While metagenomics has emerged as a technology of choice for analyzing bacterial
populations, the assembly of metagenomic data remains challenging, thus stifling biological …

De novo assembly of haplotype-resolved genomes with trio binning

S Koren, A Rhie, BP Walenz, AT Dilthey… - Nature …, 2018 - nature.com
Complex allelic variation hampers the assembly of haplotype-resolved sequences from
diploid genomes. We developed trio binning, an approach that simplifies haplotype …

[HTML][HTML] Genome sequence of the progenitor of the wheat D genome Aegilops tauschii

MC Luo, YQ Gu, D Puiu, H Wang, SO Twardziok… - Nature, 2017 - nature.com
Aegilops tauschii is the diploid progenitor of the D genome of hexaploid wheat (Triticum
aestivum, genomes AABBDD) and an important genetic resource for wheat,,. The large size …