[PDF] Top 20 An Overview of the Analysis of Next Generation Sequencing Data
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An Overview of the Analysis of Next Generation Sequencing Data
... by sequencing both ends of DNA fragments (paired-end sequencing) (see ...mapping the individual reads independently to the ref- erence, estimate the distribution of ... See full document
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Coval: improving alignment quality and variant calling accuracy for next-generation sequencing data.
... that the sequence-specific incidence of sequencing errors is still unpredictable makes it difficult to generate artificial simulated reads with error properties resembling natural reads from real ... See full document
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Next-generation sequence analysis of cancer xenograft models.
... view, the presence of contaminating mouse DNA and RNA affects the sensitivity and specificity of NGS analysis in these tumour models which should not be based on cellularity estimates, ... See full document
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Next-generation phylogeography: a targeted approach for multilocus sequencing of non-model organisms.
... field of phylogeography has long since realized the need and utility of incorporating nuclear DNA (nDNA) sequences into ...However, the use of nDNA sequence data, at the ... See full document
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Copy number variation of individual cattle genomes using next-generation sequencing
... as the reference for all experiments. To test the potential for our method to generate false positive results, we sought to confirm diploid regions (CN = 2) by our method with the array ...shows ... See full document
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Diversity and specificity of the marine sponge microbiome as inspected by next generation sequencing
... advent of molecular techniques enabled an in-depth exploration of the underlying diversity and microbial abundance within the sponge host in subsequent ...means of ... See full document
118
PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.
... from the validated deletions list, independently of which algorithm was used for calling, and we checked the overlap with our ...on the variability of the insert sizes in ... See full document
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An integrated inspection of the somatic mutations in a lung squamous cell carcinoma using next-generation sequencing.
... ascertaining the expression levels of genes harbouring somatic mutations using microarrays, and annotating expressed variants as being on the transcribed or non-transcribed strand, according to ... See full document
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Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis
... includes the 919 abstracts submitted as free communications and accepted for presentation at ICIEM ...2017. The abstracts are numbered from 001 to 919, in the order as they appear in the ... See full document
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Estimation of genetic diversity in viral populations from next generation sequencing data with extremely deep coverage
... choice of a Bayesian framework is motivated by two features that are not present in the frequentist frame- work: (1) it allows one to obtain conditional (posterior) probability distributions for the ... See full document
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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
... at the diagnostic centers of either Trieste or Naples that included a basic ophthalmic consultation, central visual acuity (CVA), Goldman visual field (GVF), fundus oculi, standard electroreti- nography ... See full document
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Unveiling distribution patterns of freshwater phytoplankton by a next generation sequencing based approach.
... Time-series data were obtained from four systems; AM, ER, RI and ZU were represented by 44, 71, 48 and 33 samples, ...bringing the total number of samples to 259 samples with 56 lakes ... See full document
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Development of a new pharmacogenomics system for lung cancer based in next generation sequencing
... emphasizes the role of molecular aberrations as the cause for the occurrence of ...now, the investments for this initiative are being focused on Precision ...Oncology. The ... See full document
14
Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
... dress the challenges posed by multiplex ...understand the risks and benefits of choices regarding these new ...Second, the optimal management of carriers of moderate-pene- trance ... See full document
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing
... by the severe deficiency of ADAMTS13, aHUS is characterized by hyperactivation of the alter- native complement pathway resulting from either a loss- of- function mutation in a ... See full document
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Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing.
... general, the mutation rates obtained by our NGS assay for genes known to be mutated in CLL (TP53, SF3B1, ATM, NOTCH1, XPO1, MYD88, DDX3X) are comparable to other studies [6–8, 10, 13, ...Most of the ... See full document
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The de novo assembly of mitochondrial genomes of the extinct passenger pigeon (Ectopistes migratorius) with next generation sequencing.
... prunes the tree of life [1] and eliminates the genetic information harbored by the ...in the tree of life and investigate evolution of genes directly ...clarify the ... See full document
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The accuracy, feasibility and challenges of sequencing short tandem repeats using next-generation sequencing platforms.
... Summary of microsatellite variant data and statistics from Sanger, GS- FLX and Illumina ...to the number of repeat units deleted or inserted; negative number refers to a deletion; positive ... See full document
14
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
... hybridization of shotgun fragment (average size 141 bp) libraries to Agilent SureSelect Human All Exon 50 Mb (Agilent Technologies, Santa Clara, CA, USA) in-solution capture ...Using the SOLiD system v4 ... See full document
7
Next-generation sequencing-based transcriptome analysis of Helicoverpa armigera Larvae immune-primed with Photorhabdus luminescens TT01.
... Recently, the development of next-generation sequencing (NGS), also called high-throughput or deep sequencing technology has provided a powerful, highly reproducible and ... See full document
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