Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics

P Song, LR Wu, YH Yan, JX Zhang, T Chu… - Nature biomedical …, 2022 - nature.com
Cell-free DNA (cfDNA) in the circulating blood plasma of patients with cancer contains
tumour-derived DNA sequences that can serve as biomarkers for guiding therapy, for the …

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

JJ Salk, MW Schmitt, LA Loeb - Nature Reviews Genetics, 2018 - nature.com
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 …

Pangenomics enables genoty** of known structural variants in 5202 diverse genomes

J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga… - Science, 2021 - science.org
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Sequencing error profiles of Illumina sequencing instruments

N Stoler, A Nekrutenko - NAR genomics and bioinformatics, 2021 - academic.oup.com
Sequencing technology has achieved great advances in the past decade. Studies have
previously shown the quality of specific instruments in controlled conditions. Here, we …

inStrain profiles population microdiversity from metagenomic data and sensitively detects shared microbial strains

MR Olm, A Crits-Christoph, K Bouma-Gregson… - Nature …, 2021 - nature.com
Coexisting microbial cells of the same species often exhibit genetic variation that can affect
phenotypes ranging from nutrient preference to pathogenicity. Here we present inStrain, a …

No evidence for increased transmissibility from recurrent mutations in SARS-CoV-2

L van Dorp, D Richard, CCS Tan, LP Shaw… - Nature …, 2020 - nature.com
COVID-19 is caused by the coronavirus SARS-CoV-2, which jumped into the human
population in late 2019 from a currently uncharacterised animal reservoir. Due to this recent …

Codiversification of gut microbiota with humans

TA Suzuki, JL Fitzstevens, VT Schmidt, H Enav… - Science, 2022 - science.org
The gut microbiomes of human populations worldwide have many core microbial species in
common. However, within a species, some strains can show remarkable population …

High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution

BJ Callahan, J Wong, C Heiner, S Oh… - Nucleic acids …, 2019 - academic.oup.com
Targeted PCR amplification and high-throughput sequencing (amplicon sequencing) of 16S
rRNA gene fragments is widely used to profile microbial communities. New long-read …

UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

T Smith, A Heger, I Sudbery - Genome research, 2017 - genome.cshlp.org
Unique Molecular Identifiers (UMIs) are random oligonucleotide barcodes that are
increasingly used in high-throughput sequencing experiments. Through a UMI, identical …

DNA-Aeon provides flexible arithmetic coding for constraint adherence and error correction in DNA storage

M Welzel, PM Schwarz, HF Löchel… - Nature …, 2023 - nature.com
The extensive information capacity of DNA, coupled with decreasing costs for DNA synthesis
and sequencing, makes DNA an attractive alternative to traditional data storage. The …