Targeted ngs
Targeted NGS, array-CGH, and patient-derived tumor xenografts for precision medicine in advanced breast cancer: a single- center prospective study
... tissue. Targeted therapeutic propositions were made according to molecular targets identified as proposed in [42], specific clinical trials available at our institution or other centers in France, and already ...
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Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
... these tools a method for exon CNV detection with high sensitivity, specificity and acceptable false discovery rate is required. For use in clinical laboratories it is also essential that the required qual- ity control ...
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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
... Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical ...
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A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome
... Genetic analysis was carried out after obtaining informed consent from the patients. Genetic testing was performed on DNA extracted from whole blood. A next generation sequencing (NGS) approach was preferred in ...
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Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
... ciency. Targeted next-generation sequencing panels have been shown to ease this ...need. Targeted gene sequencing panels may cover all (coding) exons of the human gen- ome, ...diagnoses. Targeted ...
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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
... at NGS testing (enrollment), age at onset, sex, family history of neuropathy or consanguinity, symptoms at onset, additional phenotype, and motor conduction velocity of nondominant median or ulnar nerve during ...
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome
... developed targeted NGS method based on HaloPlex gene target enrichment technology for the genetic diag- nosis of Usher syndrome provides nearly complete cover- age of all coding regions of the ten USH genes ...
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Comparative genomic analysis of primary tumors and metastases in breast cancer
... using targeted NGS (196-gene panel), the concordance rate was 85% for the known driver gene mutations ...using targeted NGS (46-gene panel), the concordance rate for all detected variants was ...
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Functional DNA quantification guides accurate next-generation sequencing mutation detection in formalin-fixed, paraffin-embedded tumor biopsies
... AmpliSeq NGS was inflated more than 7-fold for the 5 lowest quality FFPE DNA samples in our 44 sample subset when stratified by QFI (median 222 variants) compared to Qubit (median 31 ...of NGS variant ...
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The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
... high-quality targeted NGS data for the ICR96 exon CNV validation series using the TruSight Cancer Panel (TSCP) v2 which targets exons from 100 cancer predisposition genes (Supplementary File ...prepared ...
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Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis
... index. Targeted next-generation sequencing (NGS) revealed the presence of both a TP53 mutation and a PTEN deletion in the cartilaginous and the noncartilaginous components of the recurrent ...specimens. ...
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High performance of targeted next generation sequencing on variance detection in clinical tumor specimens in comparison with current conventional methods
... by targeted NGS to determine the ...by targeted NGS were confirmed by current conventional methods to elucidate the ...samples, targeted NGS can identify all hotspot mutations ...
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Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
... of NGS is to distinguish causal alleles from the numerous nonpatho- genic variants present in each ...facilitate targeted NGS analysis for genetic diagnosis of hearing ...
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Ultrasensitive single genome sequencing: accurate, targeted, next generation sequencing of HIV 1 RNA
... for targeted NGS of HIV-1 RNA, which results in very low early cycle PCR-recom- bination and more complete sampling of cDNA ...ing NGS adaptors [22, 23], which eliminates the need for a subsequent ...
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Evaluation of Targeted Next Generation Sequencing for Detection of Bovine Pathogens in Clinical Samples
... or NGS methods. NGS may not have detected the pathogens that were present in the sample in very low loads and were outcom- peted by the other pathogens that were abundant in the ...either targeted ...
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Next-generation sequencing diagnostics of bacteremia in septic patients
... text, NGS-based diagnostic testing might offer several ad- vantages over PCR assays: (i) NGS is an open platform, providing the opportunity to detect bacterial, fungal, and viral pathogens in a single ...
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Geochemical Signatures of Stream Capture in the Retreating Blue Ridge Escarpment, Southern Appalachian Mountains
... Phage display is a laboratory technique for the study of protein-protein, protein- peptide, and protein-DNA interactions. It uses viruses that infect bacteria (bacteriophage or, simply, phage) to connect proteins with ...
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Predicting response to radical (chemo)radiotherapy with circulating HPV DNA in locally advanced head and neck squamous carcinoma.
... Our findings require validation in a larger cohort of patients with longer follow-up to help establish the role of HPV16-detect in this setting. Our assay could be used for HPV DNA measurement in other HPV related ...
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Scalable and cost-effective NGS genotyping in the cloud
... genome NGS into clinically actionable information within hours and under $100 will be a breakthrough in the application of bioinformatics to precision medicine, biomedical science, translational medicine, and ...
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Next-generation sequencing still needs our generation's clinicians
... heterogeneity. NGS-based approaches will be far more effective in disorders with prominent genetic heterogeneity, as is the case in the dystroglycanopathies and many forms of hereditary motor and sensory ...
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