BMC Bioinformatics, 2019 Background Methods to read out naturally occurring or experimentally introduced nucleic acid modifications are emerging as powerful tools to study dynamic cellular processes.
Tobias Neumann +6 more
doaj +5 more sources
Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with -Related Developmental Epileptic Encephalopathy [PDF]
Annals of Child Neurology, 2021 Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic ...
Se Eun Park +4 more
doaj +6 more sources
Ten simple rules for managing high-throughput nucleotide sequencing data [PDF]
, 2016 AbstractThe challenges posed by large data volumes produced by high-throughput nucleotide sequencing technologies are well known. This document establishes ten simple rules for coping with these challenges. At the level of master data management, (1) data triage reduces data volumes; (2) some lossless data representations are much more compact than ...
Rutger Vos
openalex +3 more sources
High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution [PDF]
Nucleic Acids Research, 2019 AbstractTargeted PCR amplification and high-throughput sequencing (amplicon sequencing) of 16S rRNA gene fragments is widely used to profile microbial communities. New long-read sequencing technologies can sequence the entire 16S rRNA gene, but higher error rates have limited their attractiveness when accuracy is important.
Benjamin J. Callahan +7 more
openalex +5 more sources
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing [PDF]
Orphanet Journal of Rare Diseases, 2016 Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS).
Nadège Calmels +28 more
openalex +6 more sources
Targeted High-Throughput Sequencing Enables the Detection of Single Nucleotide Variations in CRISPR/Cas9 Gene-Edited Organisms [PDF]
Foods, 2023 Similar to genetically modified organisms (GMOs) produced by classical genetic engineering, gene-edited (GE) organisms and their derived food/feed products commercialized on the European Union market fall within the scope of European Union Directive 2001/18/EC.
Marie‐Alice Fraiture +9 more
openalex +6 more sources
A Systematic Evaluation of High-Throughput Sequencing Approaches to Identify Low-Frequency Single Nucleotide Variants in Viral Populations [PDF]
Viruses, 2020 High-throughput sequencing such as those provided by Illumina are an efficient way to understand sequence variation within viral populations. However, challenges exist in distinguishing process-introduced error from biological variance, which significantly impacts our ability to identify sub-consensus single-nucleotide variants (SNVs).
David J. King +7 more
openalex +7 more sources
High, clustered, nucleotide diversity in the genome of Anopheles gambiae revealed through pooled-template sequencing: implications for high-throughput genotyping protocols [PDF]
BMC Genomics, 2009 Association mapping approaches are dependent upon discovery and validation of single nucleotide polymorphisms (SNPs). To further association studies in Anopheles gambiae we conducted a major resequencing programme, primarily targeting regions within or close to candidate genes for insecticide resistance.Using two pools of mosquito template DNA we ...
Craig S. Wilding +3 more
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More affordable and effective noninvasive single nucleotide polymorphism genotyping using high‐throughput amplicon sequencing [PDF]
Molecular Ecology Resources, 2020 AbstractNoninvasive genotyping methods have become key elements of wildlife research over the last two decades, but their widespread adoption is limited by high costs, low success rates and high error rates. The information lost when genotyping success is low may lead to decreased precision in animal population densities, which could misguide ...
Charlotte E. Eriksson +2 more
openalex +4 more sources
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey [PDF]
BMC Genomics, 2009 AbstractBackgroundThe development of second generation sequencing methods has enabled large scale DNA variation studies at moderate cost. For the high throughput discovery of single nucleotide polymorphisms (SNPs) in species lacking a sequenced reference genome, we set-up an analysis pipeline based on a short read de novo sequence assembler and a ...
Hindrik H. D. Kerstens +6 more
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