Whole genome sequencing
Whole Genome Sequencing of Invasion Resistant Cells Identifies Laminin α2 as a Host Factor for Bacterial Invasion
... cells. Whole-genome sequencing and transcriptome sequencing (RNA-Seq) uncovered a deletion in the gene encoding the laminin subunit ␣ 2 (Lama2) that eliminated much of domain ...
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A comparison of whole genome sequencing with exome sequencing for family based association studies
... or whole genome SNPs were ...for whole genome sequencing reached 13% of ...exome sequencing obviously deviated from the diagonal line, suggesting that they were significantly ...
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Whole-genome sequencing and the clinician: a tale of two cities
... the whole genome sequencing data, we pursued follow-up long-read (Sanger) sequencing of COL6A1, COL6A2 and COL6A3 in a diagnostic laboratory in ...targeted sequencing and interpretation ...
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Whole genome sequencing reveals high complexity of copy number variation at insecticide resistance loci in malaria mosquitoes
... Polymorphisms in genetic copy number can influence gene expression, coding sequence, and zygosity, making them pow- erful actors in the evolutionary process. Copy number variants (CNVs) are however understudied, being ...
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What’s in a Name? Species Wide Whole Genome Sequencing Resolves Invasive and Noninvasive Lineages of Salmonella enterica Serotype Paratyphi B
... Whole-genome sequencing reveals the extent of divergence be- tween isolates sharing the Paratyphi B ...core genome size of isolates sharing the Paratyphi B serotype (2,949 genes) is smaller by ...
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Selective Whole Genome Amplification Is a Robust Method That Enables Scalable Whole Genome Sequencing of Plasmodium vivax from Unprocessed Clinical Samples
... ABSTRACT Whole-genome sequencing (WGS) of microbial pathogens from clin- ical samples is a highly sensitive tool used to gain a deeper understanding of the biology, epidemiology, and drug resistance ...
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Transmission and Microevolution of USA300 MRSA in U S Households: Evidence from Whole Genome Sequencing
... performed whole-genome sequencing (WGS) of 146 USA300 MRSA isolates from SSTIs and colonization cultures obtained from an investigation conducted from 2008 to 2010 in Chicago and Los Angeles ...
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Whole-genome sequencing in an autism multiplex family
... ASDs are highly heritable and that the vast majority of the mutations identified are inherited mutations. We note that one rare exception was published recently, which demonstrated that some familial ASDs were asso- ...
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Clinical use of whole genome sequencing for Mycobacterium tuberculosis
... costs. Whole genome sequencing (WGS) has been shown to provide a rapid and comprehensive view of the genotype of the organism, and thus enable reliable prediction of the drug susceptibility phenotype ...
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Whole Genome Sequencing in Epidemiology of Campylobacter jejuni Infections
... than whole-genome sequencing ...high-throughput sequencing technologies for WGS (i.e., next-generation sequencing [NGS]) has resulted in large-scale sequencing of various ...
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Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
... Our whole-genome sequencing of bladder carcinomas of various sub-types has confirmed the known bladder cancer-driver genes, including our independent discovery of STAG2-driver mutations that have ...
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Whole Genome Sequencing for Routine Pathogen Surveillance in Public Health: a Population Snapshot of Invasive Staphylococcus aureus in Europe
... ABSTRACT The implementation of routine whole-genome sequencing (WGS) promises to transform our ability to monitor the emergence and spread of bacterial pathogens. Here we combined WGS data from 308 ...
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The invasome of Salmonella Dublin as revealed by whole genome sequencing
... MM: conceived and designed the study, carried out data analyses and interpretation, conducted literature search and review, and wrote the first draft. SH, PL and RH: contributed to data interpretation, and critically ...
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On the Ethics of Clinical Whole Genome Sequencing of Children
... apply whole exome sequencing (WES) to diagnose a pediatric patient with a rare digestive ...include whole genome sequencing (WGS) and has since re- ceived requests from around the world ...
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Whole genome sequencing of Plasmodium falciparum from dried blood spots using selective whole genome amplification
... parasite whole genome sequencing ...clinics. Sequencing from DBS samples would break this technical bottleneck, allowing significant expansion of sample collection to include very remote ...
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Whole genome sequencing of nine esophageal adenocarcinoma cell lines
... Recent genome-wide sequencing projects have shown that EAC is one of the most highly mutated solid cancers with a high degree of heterogeneity (Dulak et ...paired-end whole genome ...
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Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics
... Illumina sequencing, we generated 26 DNA sequencing data sets from 13 pairs of matched formalin-fixed paraffin-embedded (FFPE) and fresh-frozen (FF) tissue ...used sequencing approaches (whole ...
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Whole genome sequencing in support of wellness and health maintenance
... Illumina Genome Sequen- cing Network at the University of Washington on HiSeq2000 (Illumina ...and sequencing libraries were ...ence Genome assembly (hg19 sequence) using CASAVA (Consensus Assessment ...
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Analytical validation of whole exome and whole genome sequencing for clinical applications
... of sequencing technology, informatics tools and RMs make validation and optimization a continuous process in which these results represent a particular moment in ...
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Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma
... Some commonly used ones are as follows. (a) CNVnator [23], RDXplorer [24], and ReadDepth [25] detect CNAs on a single tumor sample. (b) CNAseg [26], Segseq [27], ExomeCNV [28], HMMcopy [29], and VarScan2 [18] identify ...
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