High-Throughput Nucleotide Sequencing Concept

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• A comprehensive evaluation of the sl1p pipeline for 16S rRNA gene sequencing analysis  Journal Articles
• A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders  Journal Articles
• A high‐quality carabid genome assembly provides insights into beetle genome evolution and cold adaptation  Journal Articles
• A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant  Journal Articles
• A multiplexed, next generation sequencing platform for high-throughput detection of SARS-CoV-2  Journal Articles
• A multivariate Poisson-log normal mixture model for clustering transcriptome sequencing data  Journal Articles
• A recessive ataxia diagnosis algorithm for the next generation sequencing era  Journal Articles
• ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion  Journal Articles
• AXIOME3: Automation, eXtension, and Integration Of Microbial Ecology  Journal Articles
• An In Vivo High-Throughput Screening Approach Targeting the Type IV Secretion System Component VirB8 Identified Inhibitors of Brucella abortus 2308 Proliferation  Journal Articles
• An evaluation of genetic causes and environmental risks for bilateral optic atrophy  Journal Articles
• Ancient human genomics: the methodology behind reconstructing evolutionary pathways  Journal Articles
• Ancient pathogen DNA in archaeological samples detected with a Microbial Detection Array  Journal Articles
• Antimicrobial resistance surveillance in the genomic age  Journal Articles
• CANTRK  Journal Articles
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Journal Articles
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Journal Articles
• Che‐1 is targeted by c‐Myc to sustain proliferation in pre‐B‐cell acute lymphoblastic leukemia  Journal Articles
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis  Journal Articles
• Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel  Journal Articles
• Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection  Journal Articles
• Complete mitochondrial genomes of living and extinct pigeons revise the timing of the columbiform radiation  Journal Articles
• Completion of draft bacterial genomes by long-read sequencing of synthetic genomic pools  Journal Articles
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Journal Articles
• Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing  Journal Articles
• Culture-enriched metagenomic sequencing enables in-depth profiling of the cystic fibrosis lung microbiota  Journal Articles
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Journal Articles
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Journal Articles
• Deep Sequencing of Mixed Total DNA without Barcodes Allows Efficient Assembly of Highly Plastic Ascidian Mitochondrial Genomes  Journal Articles
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Journal Articles
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Journal Articles
• Development of Transcriptomic Resources for Interrogating the Biosynthesis of Monoterpene Indole Alkaloids in Medicinal Plant Species  Journal Articles
• Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice  Journal Articles
• Dual molecular diagnoses in a neurometabolic specialty clinic  Journal Articles
• Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases  Journal Articles
• Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma  Journal Articles
• Evolving Wonder-RNAs in a Test Tube  Journal Articles
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Journal Articles
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Journal Articles
• Exposure to household furry pets influences the gut microbiota of infants at 3–4 months following various birth scenarios  Journal Articles
• Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial  Journal Articles
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Journal Articles
• Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants  Journal Articles
• Genome-directed analysis of prophage excision, host defence systems, and central fermentative metabolism in Clostridium pasteurianum  Journal Articles
• Genomic approaches to bleeding disorders  Conferences
• HISEA: HIerarchical SEed Aligner for PacBio data  Journal Articles
• High-throughput DNA sequencing technologies for water and wastewater analysis  Journal Articles
• Human milk fungi: environmental determinants and inter-kingdom associations with milk bacteria in the CHILD Cohort Study  Journal Articles
• Identification of candidate microRNA markers of endometriosis with the use of next-generation sequencing and quantitative real-time polymerase chain reaction  Journal Articles
• Identification of prognostic factors in childhood T‐cell acute lymphoblastic leukemia: Results from DFCI ALL Consortium Protocols 05‐001 and 11‐001  Journal Articles
• Identifying novel β-lactamase substrate activity through in silico prediction of antimicrobial resistance  Journal Articles
• Impacts of degraded DNA on restriction enzyme associated DNA sequencing (RADSeq)  Journal Articles
• Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes  Journal Articles
• In Vitro Selection of New DNA Aptamers for Human Vascular Endothelial Growth Factor 165  Journal Articles
• In silico analyses identify sequence contamination thresholds for Nanopore-generated SARS-CoV-2 sequences.  Journal Articles
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Journal Articles
• LANDMark: an ensemble approach to the supervised selection of biomarkers in high-throughput sequencing data  Journal Articles
• LASER: Large genome ASsembly EvaluatoR  Journal Articles
• Laryngotracheal Microbiota in Adult Laryngotracheal Stenosis  Journal Articles
• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Journal Articles
• Mapping the Substrate Recognition Landscapes of Metalloproteases Using Comprehensive Mutagenesis  Journal Articles
• Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13  Journal Articles
• Massively parallel multiplex DNA sequencing for specimen identification using an Illumina MiSeq platform  Journal Articles
• Metatranscriptomic RNA-Seq Data Analysis of Virus-Infected Host Cells  Journal Articles
• Microbial diversity and biomarker analysis of modern freshwater microbialites from Laguna Bacalar, Mexico  Journal Articles
• Microbiota and host determinants of behavioural phenotype in maternally separated mice  Journal Articles
• Molecular Traits of Long Non-protein Coding RNAs from Diverse Plant Species Show Little Evidence of Phylogenetic Relationships  Journal Articles
• Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours  Journal Articles
• Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10  Journal Articles
• OCTANE (Ontario-Wide Cancer Targeted Nucleic Acid Evaluation): A Platform for Intraprovincial, National, and International Clinical Data-Sharing  Journal Articles
• Performance Characteristics of Next-Generation Sequencing for the Detection of Antimicrobial Resistance Determinants in Escherichia coli Genomes and Metagenomes  Journal Articles
• Phage Display of the Serpin Alpha-1 Proteinase Inhibitor Randomized at Consecutive Residues in the Reactive Centre Loop and Biopanned with or without Thrombin  Journal Articles
• Pollux: platform independent error correction of single and mixed genomes  Journal Articles
• Practice guidelines for BRCA1/2 tumour testing in ovarian cancer  Journal Articles
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Journal Articles
• Quantitative PCR as a Predictor of Aligned Ancient DNA Read Counts Following Targeted Enrichment  Journal Articles
• RACER: Rapid and accurate correction of errors in reads  Journal Articles
• RAPID-SELEX for RNA Aptamers  Journal Articles
• Redefining the Chronic-Wound Microbiome: Fungal Communities Are Prevalent, Dynamic, and Associated with Delayed Healing  Journal Articles
• Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing  Journal Articles
• Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between  Journal Articles
• 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  Journal Articles
• Ribosomal DNA and Plastid Markers Used to Sample Fungal and Plant Communities from Wetland Soils Reveals Complementary Biotas  Journal Articles
• Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti  Journal Articles
• SAGE2: parallel human genome assembly  Journal Articles
• SAGE: String-overlap Assembly of GEnomes  Journal Articles
• Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2  Journal Articles
• Shotgun Mitogenomics Provides a Reference Phylogenetic Framework and Timescale for Living Xenarthrans  Journal Articles
• SnapShot: High-Throughput Sequencing Applications  Journal Articles
• SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts  Journal Articles
• StrandAdvantage test for early‐line and advanced‐stage treatment decisions in solid tumors  Journal Articles
• Strandedness during cDNA synthesis, the stranded parameter in htseq-count and analysis of RNA-Seq data  Journal Articles
• Successful reconstruction of whole mitochondrial genomes from ancient Central America and Mexico  Journal Articles
• Surveying the Repair of Ancient DNA from Bones Via High-Throughput Sequencing  Journal Articles
• Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease  Journal Articles
• Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases  Journal Articles
• Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma  Journal Articles
• Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care  Journal Articles
• The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders  Journal Articles
• The Evolutionary Landscape of Localized Prostate Cancers Drives Clinical Aggression  Journal Articles
• The Evolving Facets of Bacterial Vaginosis: Implications for HIV Transmission  Journal Articles
• The paradox of HBV evolution as revealed from a 16th century mummy  Journal Articles
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Journal Articles
• Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population  Journal Articles
• Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Journal Articles
• Xenopus fraseri: Mr. Fraser, where did your frog come from?  Journal Articles
• vRhyme enables binning of viral genomes from metagenomes  Journal Articles