High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing [PDF]
Nature Communications, 2018 Functional characterization of disease-causing variants at risk loci in cancer is challenging. Here, in prostate cancer the authors report a pipeline for high-throughput single-nucleotide polymorphisms sequencing (SNPs-seq) for large scale screening of ...
Peng Zhang +16 more
doaj +6 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]
bioRxiv, 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
semanticscholar +3 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
semanticscholar +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
semanticscholar +8 more sources
High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution [PDF]
Nucleic Acids Research, 2019 Abstract Targeted 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
semanticscholar +4 more sources
Genetics and Molecular Biology, 2015 The leachate generated by the decomposition of animal carcass has been implicated as an environmental contaminant surrounding the burial site. High-throughput nucleotide sequencing was conducted to investigate the bacterial communities in leachates from the decomposition of pig carcasses. We acquired 51,230 reads from six different samples (1, 2, 3, 4,
Yang, Seung Hak +6 more
openaire +7 more sources
Utilization of high throughput genome sequencing technology for large scale single nucleotide polymorphism discovery in red deer and Canadian elk [PDF]
bioRxiv, 2015 ABSTRACTDeer farming is a significant international industry. For genetic improvement, using genomic tools, an ordered array of DNA variants and associated flanking sequence across the genome is required. This work reports a comparative assembly of the deer genome and subsequent DNA variant identification.
Rüdiger Bräuning +8 more
semanticscholar +3 more sources
High-throughput, Efficient, and Unbiased Capture of Small RNAs from Low-input Samples for Sequencing. [PDF]
Scientific Reports, 2019 MicroRNAs hold great promise as biomarkers of disease. However, there are few efficient and robust methods for measuring microRNAs from low input samples.
Belair, Cassandra D +5 more
core +3 more sources
High-throughput single nucleotide polymorphism (SNP) identification and mapping in the sesame (Sesamum indicum L.) genome with genotyping by sequencing (GBS) analysis [PDF]
Molecular Breeding, 2016 Sesame (Sesamum indicum L. syn. Sesamum orientale L.) is considered to be the first oil seed crop known to man. Despite its versatile use as an oil seed and a leafy vegetable, sesame is a neglected crop and has not been a subject of molecular genetic research until the last decade.
Ayşe Özgür Uncu +3 more
semanticscholar +6 more sources