High-Throughput Nucleotide Sequencing Concept

subject area of

• A comprehensive evaluation of the sl1p pipeline for 16S rRNA gene sequencing analysis  Academic Article
• A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders  Academic Article
• A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant  Academic Article
• A multiplexed, next generation sequencing platform for high-throughput detection of SARS-CoV-2  Academic Article
• A multivariate Poisson-log normal mixture model for clustering transcriptome sequencing data  Academic Article
• A recessive ataxia diagnosis algorithm for the next generation sequencing era  Academic Article
• ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion  Academic Article
• AXIOME3: Automation, eXtension, and Integration Of Microbial Ecology  Academic Article
• An In Vivo High-Throughput Screening Approach Targeting the Type IV Secretion System Component VirB8 Identified Inhibitors of Brucella abortus 2308 Proliferation  Academic Article
• An evaluation of genetic causes and environmental risks for bilateral optic atrophy  Academic Article
• Ancient human genomics: the methodology behind reconstructing evolutionary pathways  Academic Article
• Ancient pathogen DNA in archaeological samples detected with a Microbial Detection Array  Academic Article
• Antimicrobial resistance surveillance in the genomic age  Academic Article
• CANTRK  Academic Article
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Academic Article
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Academic Article
• Che‐1 is targeted by c‐Myc to sustain proliferation in pre‐B‐cell acute lymphoblastic leukemia  Academic Article
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis  Academic Article
• Clinical evaluation of a hemochromatosis next-generation sequencing gene panel  Academic Article
• Complete mitochondrial genomes of living and extinct pigeons revise the timing of the columbiform radiation  Academic Article
• Completion of draft bacterial genomes by long-read sequencing of synthetic genomic pools  Academic Article
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Academic Article
• Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing  Academic Article
• Correlative Analysis of Genetic Alterations and Everolimus Benefit in Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Advanced Breast Cancer: Results From BOLERO-2  Academic Article
• Culture-enriched metagenomic sequencing enables in-depth profiling of the cystic fibrosis lung microbiota  Academic Article
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Academic Article
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Academic Article
• Deep Sequencing of Mixed Total DNA without Barcodes Allows Efficient Assembly of Highly Plastic Ascidian Mitochondrial Genomes  Academic Article
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Academic Article
• Deep sequencing reveals 50 novel genes for recessive cognitive disorders  Academic Article
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Academic Article
• Development of Transcriptomic Resources for Interrogating the Biosynthesis of Monoterpene Indole Alkaloids in Medicinal Plant Species  Academic Article
• Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing  Academic Article
• Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice  Academic Article
• Dual molecular diagnoses in a neurometabolic specialty clinic  Academic Article
• Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases  Academic Article
• Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma  Academic Article
• Evolving Wonder-RNAs in a Test Tube  Academic Article
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Academic Article
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Academic Article
• Exposure to household furry pets influences the gut microbiota of infants at 3–4 months following various birth scenarios  Academic Article
• Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial  Academic Article
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Academic Article
• Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants  Academic Article
• Genome-directed analysis of prophage excision, host defence systems, and central fermentative metabolism in Clostridium pasteurianum  Academic Article
• Genomic approaches to bleeding disorders  Conference Paper
• HISEA: HIerarchical SEed Aligner for PacBio data  Academic Article
• High-throughput DNA sequencing technologies for water and wastewater analysis  Academic Article
• Human milk fungi: environmental determinants and inter-kingdom associations with milk bacteria in the CHILD Cohort Study  Academic Article
• Identification of candidate microRNA markers of endometriosis with the use of next-generation sequencing and quantitative real-time polymerase chain reaction  Academic Article
• Identification of prognostic factors in childhood T‐cell acute lymphoblastic leukemia: Results from DFCI ALL Consortium Protocols 05‐001 and 11‐001  Academic Article
• Identifying novel β-lactamase substrate activity through in silico prediction of antimicrobial resistance  Academic Article
• Impacts of degraded DNA on restriction enzyme associated DNA sequencing (RADSeq)  Academic Article
• Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes  Academic Article
• In Vitro Selection of New DNA Aptamers for Human Vascular Endothelial Growth Factor 165  Academic Article
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Academic Article
• LANDMark: an ensemble approach to the supervised selection of biomarkers in high-throughput sequencing data  Academic Article
• LASER: Large genome ASsembly EvaluatoR  Academic Article
• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Academic Article
• Mapping the Substrate Recognition Landscapes of Metalloproteases Using Comprehensive Mutagenesis  Academic Article
• Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13  Academic Article
• Massively parallel multiplex DNA sequencing for specimen identification using an Illumina MiSeq platform  Academic Article
• Microbial diversity and biomarker analysis of modern freshwater microbialites from Laguna Bacalar, Mexico  Academic Article
• Microbiota and host determinants of behavioural phenotype in maternally separated mice  Academic Article
• Molecular Traits of Long Non-protein Coding RNAs from Diverse Plant Species Show Little Evidence of Phylogenetic Relationships  Academic Article
• Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours  Academic Article
• OCTANE (Ontario-Wide Cancer Targeted Nucleic Acid Evaluation): A Platform for Intraprovincial, National, and International Clinical Data-Sharing  Academic Article
• Performance Characteristics of Next-Generation Sequencing for the Detection of Antimicrobial Resistance Determinants in Escherichia coli Genomes and Metagenomes  Academic Article
• Phage Display of the Serpin Alpha-1 Proteinase Inhibitor Randomized at Consecutive Residues in the Reactive Centre Loop and Biopanned with or without Thrombin  Academic Article
• Pollux: platform independent error correction of single and mixed genomes  Academic Article
• Practice guidelines for BRCA1/2 tumour testing in ovarian cancer  Academic Article
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Academic Article
• Quantitative PCR as a predictor of aligned ancient DNA read counts following targeted enrichment  Academic Article
• RACER: Rapid and accurate correction of errors in reads  Academic Article
• RAPID-SELEX for RNA Aptamers  Academic Article
• Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between  Academic Article
• RiboFACSeq: A new method for investigating metabolic and transport pathways in bacterial cells by combining a riboswitch-based sensor, fluorescence-activated cell sorting and next-generation sequencing  Academic Article
• Ribosomal DNA and Plastid Markers Used to Sample Fungal and Plant Communities from Wetland Soils Reveals Complementary Biotas  Academic Article
• Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti  Academic Article
• SAGE2: parallel human genome assembly  Academic Article
• SAGE: String-overlap Assembly of GEnomes  Academic Article
• Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2  Academic Article
• Shotgun Mitogenomics Provides a Reference Phylogenetic Framework and Timescale for Living Xenarthrans  Academic Article
• SnapShot: High-Throughput Sequencing Applications  Academic Article
• SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts  Academic Article
• StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors  Academic Article
• Strandedness during cDNA synthesis, the stranded parameter in htseq-count and analysis of RNA-Seq data  Academic Article
• Successful reconstruction of whole mitochondrial genomes from ancient Central America and Mexico  Academic Article
• Surveying the repair of ancient DNA from bones via high-throughput sequencing  Academic Article
• Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease  Academic Article
• Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases  Academic Article
• Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma  Academic Article
• Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care  Academic Article
• The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders  Academic Article
• The Evolving Facets of Bacterial Vaginosis: Implications for HIV Transmission  Academic Article
• The paradox of HBV evolution as revealed from a 16th century mummy  Academic Article
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Academic Article
• Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population  Academic Article
• Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Academic Article
• Xenopus fraseri: Mr. Fraser, where did your frog come from?  Academic Article