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 …

Fiji: an open-source platform for biological-image analysis

J Schindelin, I Arganda-Carreras, E Frise, V Kaynig… - Nature …, 2012 - nature.com
Fiji is a distribution of the popular open-source software ImageJ focused on biological-image
analysis. Fiji uses modern software engineering practices to combine powerful software …

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 …

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 …

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 …

Phased diploid genome assembly with single-molecule real-time sequencing

CS Chin, P Peluso, FJ Sedlazeck, M Nattestad… - Nature …, 2016 - nature.com
While genome assembly projects have been successful in many haploid and inbred
species, the assembly of noninbred or rearranged heterozygous genomes remains a major …

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

CS Chin, DH Alexander, P Marks, AA Klammer… - Nature …, 2013 - nature.com
We present a hierarchical genome-assembly process (HGAP) for high-quality de novo
microbial genome assemblies using only a single, long-insert shotgun DNA library in …

A fast, lock-free approach for efficient parallel counting of occurrences of k-mers

G Marçais, C Kingsford - Bioinformatics, 2011 - academic.oup.com
Motivation: Counting the number of occurrences of every k-mer (substring of length k) in a
long string is a central subproblem in many applications, including genome assembly, error …

Initial sequencing and analysis of the human genome

US DOE Joint Genome Institute: Hawkins Trevor 4 … - Nature, 2001 - nature.com
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …