Results 21 to 30 of about 271,712 (303)

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing [PDF]

open access: goldOrphanet 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   +5 more sources

Evaluation of a High-Throughput Dense Single-Nucleotide Polymorphism PCR Multiplex Next Generation Sequencing Application for Human Remains Identification

open access: diamondForensic Genomics, 2023
Sarah Radecke   +6 more
openalex   +2 more sources

Targeted Amplicon Sequencing for Single-Nucleotide-Polymorphism Genotyping of Attaching and Effacing Escherichia coli O26:H11 Cattle Strains via a High-Throughput Library Preparation Technique [PDF]

open access: hybridApplied and Environmental Microbiology, 2015
ABSTRACT Enterohemorrhagic Escherichia coli (EHEC) O26:H11, a serotype within Shiga toxin-producing E. coli (STEC) that causes severe human disease, has been considered to have evolved from attaching and effacing E. coli (AEEC) O26:H11 through the acquisition
Sarah A. Ison   +8 more
openalex   +4 more sources

Microbiome Analysis Using Next-Generation Sequencing in Urinary Tract Infections [PDF]

open access: yesUrogenital Tract Infection, 2022
In recent decades, the understanding of the genetic information of microbes and hosts has advanced considerably with the development of next-generation sequencing (NGS).
Hyunho Han, Joo Yong Lee
doaj   +1 more source

Selection of optimal bioinformatic tools and proper reference for reducing the alignment error in targeted sequencing data

open access: yesJournal of Medical Signals and Sensors, 2021
Background: Careful design in the primary steps of a next-generation sequencing study is critical for obtaining successful results in downstream analysis.
Hannane Mohammadi Nodehi   +2 more
doaj   +1 more source

Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic Encephalopathy [PDF]

open access: diamondAnnals of Child Neurology, 2020
Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic ...
Se Eun Park   +4 more
openalex   +2 more sources

Gene expression profile of Scardovia spp. in the metatranscriptome of root caries [PDF]

open access: yesBrazilian Oral Research, 2020
A few investigations of caries biofilms have identified Scardovia spp.; however, little is known about its involvement in caries pathogenesis. The purpose of this study was to assess the gene expression profile of Scardovia spp.
Naile DAMÉ-TEIXEIRA   +4 more
doaj   +2 more sources

Analytical Tools and Databases for Metagenomics in the Next-Generation Sequencing Era [PDF]

open access: yesGenomics & Informatics, 2013
Metagenomics has become one of the indispensable tools in microbial ecology for the last few decades, and a new revolution in metagenomic studies is now about to begin, with the help of recent advances of sequencing techniques.
Mincheol Kim   +5 more
doaj   +1 more source

High-throughput single nucleotide polymorphism (SNP) identification and mapping in the sesame (Sesamum indicum L.) genome with genotyping by sequencing (GBS) analysis [PDF]

open access: greenMolecular 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
openalex   +5 more sources

Optimization of conditions for in vitro modeling of subgingival normobiosis and dysbiosis

open access: yesFrontiers in Microbiology, 2022
Modeling subgingival microbiome in health and disease is key to identifying the drivers of dysbiosis and to studying microbiome modulation. Here, we optimize growth conditions of our previously described in vitro subgingival microbiome model. Subgingival
Divyashri Baraniya   +7 more
doaj   +1 more source

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