Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis [PDF]
Introduction To evaluate a next-generation sequencing (NGS) workflow in the screening and diagnosis of thalassemia. Methods In this prospective study, blood samples were obtained from people undergoing genetic screening for thalassemia at our centre in ...
Peisong Chen +6 more
doaj +2 more sources
Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data [PDF]
Background The application of next-generation sequencing in cancer has revealed the genomic landscape of many tumour types and is nowadays routinely used in research and clinical settings.
Qing Wang +6 more
doaj +2 more sources
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR [PDF]
Background The occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods. Objectives To characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase ...
Eric Manderstedt +5 more
doaj +2 more sources
Ion Torrent and lllumina, two complementary RNA-seq platforms for constructing the holm oak (Quercus ilex) transcriptome. [PDF]
Transcriptome analysis is widely used in plant biology research to explore gene expression across a large variety of biological contexts such as those related to environmental stress and plant-pathogen interaction.
Victor M Guerrero-Sanchez +5 more
doaj +2 more sources
Ion torrent high throughput mitochondrial genome sequencing (HTMGS). [PDF]
The implementation and popularity of next generation sequencing (NGS) has led to the development of various rapid whole mitochondrial genome sequencing techniques. We summarise an efficient and cost-effective NGS approach for mitochondrial genomic DNA in
N R Harvey +10 more
doaj +2 more sources
A comparison of Illumina and Ion Torrent sequencing platforms in the context of differential gene expression [PDF]
Background Though Illumina has largely dominated the RNA-Seq field, the simultaneous availability of Ion Torrent has left scientists wondering which platform is most effective for differential gene expression (DGE) analysis.
Nicholas F. Lahens +9 more
doaj +2 more sources
Evaluating 16S metagenomics data analysis pipelines using an Ion Torrent sequencer for human gut microbiome research [PDF]
Background High-throughput 16S rRNA gene amplicon sequencing is essential for characterizing gut dysbiosis in translational research. However, microbiome profiles vary widely across sequencing platforms, library preparation protocols, targeted ...
Roddy Jorquera +7 more
doaj +2 more sources
High-Quality Resolution of the Outbreak-Related Zika Virus Genome and Discovery of New Viruses Using Ion Torrent-Based Metatranscriptomics [PDF]
Arboviruses, including the Zika virus, have recently emerged as one of the most important threats to human health. The use of metagenomics-based approaches has already proven valuable to aid surveillance of arboviral infections, and the ability to ...
Silvia I. Sardi +7 more
doaj +2 more sources
Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing. [PDF]
Ewing sarcoma (ES) is the second most common malignant bone and soft tissue tumor in children and adolescents. Despite advances in comprehensive treatment, patients with ES metastases still suffer poor outcomes, thus, emphasizing the need for detailed ...
Nana Zhang +5 more
doaj +2 more sources
Comparison of error correction algorithms for Ion Torrent PGM data: application to hepatitis B virus [PDF]
Ion Torrent Personal Genome Machine (PGM) technology is a mid-length read, low-cost and high-speed next-generation sequencing platform with a relatively high insertion and deletion (indel) error rate.
Liting Song +5 more
doaj +2 more sources

