Whole Genome Sequencing Concept

subject area of

• A Comparison of Whole Genome Sequencing of SARS-CoV-2 Using Amplicon-Based Sequencing, Random Hexamers, and Bait Capture  Journal Articles
• A diverse intrinsic antibiotic resistome from a cave bacterium  Journal Articles
• A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant  Journal Articles
• A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction  Journal Articles
• Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience  Journal Articles
• Bacteriophage ZCSE2 is a Potent Antimicrobial against Salmonella enterica Serovars: Ultrastructure, Genomics and Efficacy  Journal Articles
• COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage  Journal Articles
• Capturing the Resistome: a Targeted Capture Method To Reveal Antibiotic Resistance Determinants in Metagenomes  Journal Articles
• Challenges and practical solutions for managing secondary genomic findings in primary care  Journal Articles
• Comparative genomics of multidrug-resistant Enterococcus spp. isolated from wastewater treatment plants  Journal Articles
• Comparison of biochemical and genotypic speciation methods for vancomycin-resistant enterococci isolated from urban wastewater treatment plants  Journal Articles
• Complete mitochondrial genome sequence of the heart failure model of cardiomyopathic Syrian hamster ( Mesocricetus auratus )  Journal Articles
• Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy  Journal Articles
• Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder  Conferences
• Datasets for benchmarking antimicrobial resistance genes in bacterial metagenomic and whole genome sequencing  Journal Articles
• Detection of Antimicrobial Resistance Using Proteomics and the Comprehensive Antibiotic Resistance Database: A Case Study  Journal Articles
• Dissemination of Verona Integron-encoded Metallo-β-lactamase among clinical and environmental Enterobacteriaceae isolates in Ontario, Canada  Journal Articles
• Diversity of culturable bacterial isolates and their potential as antimicrobial against human pathogens from Afar region, Ethiopia.  Journal Articles
• Genome-directed analysis of prophage excision, host defence systems, and central fermentative metabolism in Clostridium pasteurianum  Journal Articles
• Genomic Epidemiology of Invasive Methicillin-Resistant Staphylococcus aureus Infections Among Hospitalized Individuals in Ontario, Canada  Journal Articles
• Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project  Journal Articles
• Genotypic and Phenotypic Analyses of Two “Isogenic” Strains of the Human Fungal Pathogen Cryptococcus neoformans var. neoformans  Journal Articles
• Germline contamination and leakage in whole genome somatic single nucleotide variant detection.  Journal Articles
• Identifying novel β-lactamase substrate activity through in silico prediction of antimicrobial resistance  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
• Isolation, Sequence, Infectivity, and Replication Kinetics of Severe Acute Respiratory Syndrome Coronavirus 2  Journal Articles
• Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study  Journal Articles
• Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution  Journal Articles
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Journal Articles
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Journal Articles
• Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization  Journal Articles
• Polygenic Risk Score for Low-Density Lipoprotein Cholesterol Is Associated With Risk of Ischemic Heart Disease and Enriches for Individuals With Familial Hypercholesterolemia  Journal Articles
• Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing  Journal Articles
• Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing  Journal Articles
• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Journal Articles
• Targeted amplification-based whole genome sequencing of Monkeypox virus in clinical specimens  Journal Articles
• The DNA methylation landscape of advanced prostate cancer  Journal Articles
• The porcine skin microbiome exhibits broad fungal antagonism  Journal Articles