Current status of use of high throughput nucleotide sequencing in rheumatology. [PDF]
RMD Open, 2021 Objective Here, we assess the usage of high throughput sequencing (HTS) in rheumatic research and the availability of public HTS data of rheumatic samples.
Boegel S, Castle JC, Schwarting A.
europepmc +7 more sources
Evaluation of MC1R high-throughput nucleotide sequencing data generated by the 1000 Genomes Project. [PDF]
Genet Mol Biol, 2017 The advent of next-generation sequencing allows simultaneous processing of several genomic regions/individuals, increasing the availability and accuracy of whole-genome data. However, these new approaches may present some errors and bias due to alignment,
Marano LA +3 more
europepmc +10 more sources
Neuropeptidergic Signaling in the American Lobster Homarus americanus: New Insights from High-Throughput Nucleotide Sequencing. [PDF]
PLoS One, 2015 Peptides are the largest and most diverse class of molecules used for neurochemical communication, playing key roles in the control of essentially all aspects of physiology and behavior.
Christie AE +7 more
europepmc +7 more sources
Correction: Current status of use of high throughput nucleotide sequencing in rheumatology. [PDF]
RMD Open, 2021 Boegel S, Castle JC, Schwarting A. Current status of use of high throughput nucleotide sequencing in rheumatology. RMD Open 2021;7:e001324. doi: 10.1136/rmdopen-2020-001324 The article has been …
europepmc +7 more sources
Correcting nucleotide-specific biases in high-throughput sequencing data [PDF]
BMC Bioinformatics, 2017 High-throughput sequence (HTS) data exhibit position-specific nucleotide biases that obscure the intended signal and reduce the effectiveness of these data for downstream analyses.
Jeremy Wang +2 more
semanticscholar +5 more sources
Ten simple rules for managing high-throughput nucleotide sequencing data [PDF]
bioRxiv, 2016 The 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
Rutger Vos
semanticscholar +3 more sources
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing [PDF]
Orphanet Journal of Rare Diseases, 2016 BackgroundDeficient 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 ...
Nadège Calmels +28 more
semanticscholar +6 more sources
High-throughput telomere length measurement at nucleotide resolution using the PacBio high fidelity sequencing platform [PDF]
Nature Communications, 2023 Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes. The progressive shortening of steady-state telomere length in normal human somatic cells is a promising biomarker for age-associated diseases.
Cheng Yong Tham +18 more
semanticscholar +7 more sources
High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution [PDF]
Nucleic Acids Research, 2019 Targeted PCR amplification and high-throughput sequencing (amplicon sequencing) of 16S rRNA gene fragments is widely used to profile microbial communities.
Benjamin J. Callahan +7 more
semanticscholar +4 more sources
Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic Encephalopathy [PDF]
Annals of Child Neurology, 2020 (SCN2A) gene (OMIM 182390) encodes the alpha subunit of Nav1.2 [1]. It is expressed plentifully in neurons during early infancy and plays a role in neuronal excitability [2].
Se Eun Park +4 more
semanticscholar +3 more sources