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Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics
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 …
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
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 …
Pangenomics enables genoty** of known structural variants in 5202 diverse genomes
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
Sequencing error profiles of Illumina sequencing instruments
Sequencing technology has achieved great advances in the past decade. Studies have
previously shown the quality of specific instruments in controlled conditions. Here, we …
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
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 …
phenotypes ranging from nutrient preference to pathogenicity. Here we present inStrain, a …
No evidence for increased transmissibility from recurrent mutations in SARS-CoV-2
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 …
population in late 2019 from a currently uncharacterised animal reservoir. Due to this recent …
Codiversification of gut microbiota with humans
The gut microbiomes of human populations worldwide have many core microbial species in
common. However, within a species, some strains can show remarkable population …
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
Targeted PCR amplification and high-throughput sequencing (amplicon sequencing) of 16S
rRNA gene fragments is widely used to profile microbial communities. New long-read …
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
Unique Molecular Identifiers (UMIs) are random oligonucleotide barcodes that are
increasingly used in high-throughput sequencing experiments. Through a UMI, identical …
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
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 …
and sequencing, makes DNA an attractive alternative to traditional data storage. The …