[PDF] Top 20 Targeted next generation sequencing as a tool for precision medicine
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Targeted next generation sequencing as a tool for precision medicine
... by sequencing cluster (n = ...all sequencing runs (n = ...within sequencing reads (n = ...the targeted sequence for CES1 and CBR1 showing the inaccessible target ... See full document
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Original Article Mutations in NSCLC identified by a next-generation sequencing targeted sequencing panel
... Abstract: Next-generation sequencing (NGS) has become a cost-effective approach to screening for a number of genes simultaneously in clinical ...NGS targeted sequencing ...NGS ... See full document
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Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
... A consanguineous couple from Egypt (first cousins, Family 4, Fig. 1 ) who had lost a child with clinically diag- nosed severe lymphohistiocytosis after three miscarriages in early pregnancies displayed a rare ... See full document
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Evaluation of Targeted Next Generation Sequencing for Detection of Bovine Pathogens in Clinical Samples
... in next-generation sequencing (NGS) have provided the opportunity for development of a comprehensive method to identify infectious ...bioinformatics tool was specifi- cally constructed for the ... See full document
11
HLAreporter: a tool for HLA typing from next generation sequencing data
... To assign candidate alleles to the assembled contigs, the targeted contigs are then matched to the sequences in the two databases, mDB and aDB, sequentially. To guar- antee accuracy, a stringent standard is ... See full document
12
CoverView: a sequence quality evaluation tool for next generation sequencing data.
... analysed with CoverView v.1.4.3 with a BED file specifying the TSCP targeted regions. Duplicate reads were included in the analysis. In this use case we set the minimal requirement for a region to ‘PASS’ as ... See full document
12
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
... Targeted next-generation ...The targeted regions were designed using the SureDesign system (Agilent Technologies, Santa Clara, CA) to include all coding exons with 39 and 59 intronic 25-bp ... See full document
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Clues toward precision medicine in oral squamous cell carcinoma: utility of next-generation sequencing for the prognostic stratification of high-risk patients harboring neck lymph node extracapsular extension
... This study includes a subanalysis of a previously described cohort [12] consisting of 345 patients with treatment-naïve, resected OSCC. All participants showed evidence of nodal disease and tumor samples were available ... See full document
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Lifestyle precision medicine: the next generation in type 2 diabetes prevention?
... more targeted therapeutic strategies for diabetes prevention (precision medicine), though largely confined to ...lifestyle precision medicine in diabetes seems ... See full document
11
Ultra Fast Next Generation Human Genome Sequencing Data Processing Using DRAGENTM Bio IT Processor for Precision Medicine
... This study was carried out in two steps. First, run time performance of the DRAGEN Bio-IT Genome pipelines with the most commonly used GATK’s best-practice guidelines were analyzed for the 2 replicates of NA12878 Whole ... See full document
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Cell-free DNA and next-generation sequencing in the service of personalized medicine for lung cancer
... genome sequencing and targeted NGS, Xia et ...and targeted NGS revealed 14 point mutations in 12 genes in solid tumor tissue ...a targeted NGS panel for 11 oncogenes commonly associated with ... See full document
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The Role of Next-Generation Sequencing in Precision Medicine: A Review of Outcomes in Oncology
... in NGS-guided care in oncology. Distributed under a Creative Commons CC BY license... Outline of Precision Medicine in Oncology. Cancer patients have genomic, clinical, and insurance 45[r] ... See full document
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Toward precision medicine with next-generation EGFR inhibitors in non-small-cell lung cancer
... The epidermal growth factor receptor (EGFR) pathway is one such signaling path- way that has been targeted for the treatment of patients with EGFR mutant non-small- cell lung carcinoma (NSCLC). Somatic EGFR ... See full document
11
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve
... genome sequencing remains at this time a costly technology, thus limiting its application to the sequencing of large co- horts of ...of targeted capture kits that allow for the rapid and accurate se- ... See full document
10
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 and ... See full document
15
Original Article Genetic heterogeneity in hepatocellular carcinoma and paired bone metastasis revealed by next-generation sequencing
... mutants involved, mainly due to frame- shift and missense mutations. These include important driver mutations in cancer cells, known as cancer driven genes such as EGFR, ALK, KRAS, and PI3KCA. If further samples are ... See full document
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
... and next-generation sequencing The coding exons of 378 genes located in the three homozygosity-by-descent (HBD) regions (RefSeq data- base) corresponded to 2855 regions and 505 kb of sequence, ... See full document
6
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
... driven targeted sequencing ...were targeted, except for GJB1, for which the target region is extended 860 bases upstream of the ATG start codon to include the nerve- specific promoter region, and ... See full document
12
Targeted Next Generation Sequencing for malaria research in Africa: current status and outlook
... the sequencing world is opening new frontiers for biomedical research and Africa must ben- efit from application of TNGS for malaria ...data generation is relatively straight- forward, but achieving ... See full document
6
A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
... Familial adenomatous polyposis (FAP) is an autosomal dominant disease manifesting as colorectal cancer in middle-aged patients. Mutations of the adenomatous polyposis coli (APC) gene contribute to both FAP and sporadic ... See full document
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