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