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Next Generation Sequencing (NGS) Data Analysis

Implementation of Cloud based Next Generation Sequencing data analysis in a clinical laboratory

Implementation of Cloud based Next Generation Sequencing data analysis in a clinical laboratory

... frameworks such as Galaxy [7-9] have made many of these tools much more accessible to less technically savvy users, but still require a great deal of bioinformatics expertise to set up a fully-operational data ...

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A comparative study of k-spectrum-based error correction methods for next-generation sequencing data analysis

A comparative study of k-spectrum-based error correction methods for next-generation sequencing data analysis

... The goal of this comparative study is to conduct an independent and unbiased assessment of the newly developed k-spectrum-based error correctors and to provide some guidance concerning how to choose a suitable error ...

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ASEQ: fast allele-specific studies from next-generation sequencing data

ASEQ: fast allele-specific studies from next-generation sequencing data

... The auxiliary GENOTYPE mode determines the geno- type at each input SNP position. The GENOTYPE mode is not designed to discover SNPs, but rather to compute the genotype of an input sample at known SNP positions (e.g. ...

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HLAreporter: a tool for HLA typing from next generation sequencing data

HLAreporter: a tool for HLA typing from next generation sequencing data

... exome sequencing (WES) data demon- strated that this new method is capable of reporting HLA alleles at high-digit resolution with great ...preliminary analysis of WES data from 149 NGS samples ...

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Determining the quality and complexity of next generation sequencing data without a reference genome

Determining the quality and complexity of next generation sequencing data without a reference genome

... of sequencing reads, identi- fication of point mutations, whole genome assembly, searches for homologous regions and phylogenetic ana- lysis ...k-mer analysis tools are capable of efficiently generating ...

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

... the sequencing of these genes in clinical practice could be a useful analysis to perform [Redin et ...our data support the above list, we can add more genes: SETD5, ARID1B, and ...justify ...

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Mobster: accurate detection of mobile element insertions in next generation sequencing data

Mobster: accurate detection of mobile element insertions in next generation sequencing data

... WGS data across Alu and L1 events (Table ...simulation data based on different read depths (see Additional file 1: Figures S1 and S2) and benchmarking with a public NGS ...WGS data with read lengths ...

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Next generation sequencing in thyroid cancer

Next generation sequencing in thyroid cancer

... depth analysis of multiple, diverse cancers by a number of devices and gene panels, and has led to more effec- tive options for cancer screening, prevention, diagnosis, prognosis, and targeted ...variable ...

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Next Generation Sequencing in the UMC Groningen

Next Generation Sequencing in the UMC Groningen

... An analysis of the current sojourn times, access times, queue sizes or number of starting processes has not been ...enough data available for a reliable analysis. Historical data from before ...

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Next-generation sequencing approach to hyperCKemia

Next-generation sequencing approach to hyperCKemia

... phenotype data in the present study, to its more homogeneous population (mostly adults in our cohort as opposed to the mixed populations studied by others), to technical improvements implicit in more recent gene ...

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Next generation sequencing: recent applications to the analysis of colorectal cancer

Next generation sequencing: recent applications to the analysis of colorectal cancer

... Next-generation sequencing technology can be con- sidered as the future of high-throughput data analysis and genomic sequencing, providing a method to obtain high-throughput ...

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Unraveling genomic variation from next generation sequencing data

Unraveling genomic variation from next generation sequencing data

... As next generation sequencing (NGS) techniques have become cheaper and more advanced in throughput over time, great innovations and breakthrough conclusions have been generated in various biological ...

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CoverView: a sequence quality evaluation tool for next generation sequencing data.

CoverView: a sequence quality evaluation tool for next generation sequencing data.

... NGS data that was designed to be user-friendly, fast, flexible and easy to integrate into NGS analysis ...Quality Sequencing Minimum (QSM) to deliver comprehensive, consistent, transparent NGS ...

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Visual programming for next-generation sequencing data analytics

Visual programming for next-generation sequencing data analytics

... or next-generation sequencing (NGS) technologies have become an established and affordable experimental framework in biological and medical sciences for all basic and translational ...NGS data ...

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Overviews of “next-generation sequencing”

Overviews of “next-generation sequencing”

... DNA sequencing technology has a rich diverse ...years, next-generation sequencing (NGS) has demonstrated its potential to accelerate research in the field of life sciences in general and ...

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Error Correction in Next Generation DNA Sequencing Data

Error Correction in Next Generation DNA Sequencing Data

... advanced data structures with an intricate analysis of data to achieve high ...real data sets to compare RACER with the current leading ...

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Estimating Individual Admixture Proportions from Next Generation Sequencing Data

Estimating Individual Admixture Proportions from Next Generation Sequencing Data

... admixture analysis as we have shown through ...the analysis on genotype likelihoods always outperforms the called ...the analysis, and most importantly the depth of the other ...missing data ...

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Quantifying Population Genetic Differentiation from Next-Generation Sequencing Data

Quantifying Population Genetic Differentiation from Next-Generation Sequencing Data

... taking sequencing data uncertainty into account (Li 2011; Nielsen et ...sampling sequencing reads and measured population differentiation in terms of haplotype ...the analysis of population ...

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Analysis of error profiles in deep next generation sequencing data

Analysis of error profiles in deep next generation sequencing data

... line data allowed us to characterize false-positive detections from 1:1000 and 1:5000 dilution datasets because the mutant allele fraction of a false-positive call would not exhibit 1000- to 5000-fold increase in ...

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Adaptive bandwidth kernel density estimation for next generation sequencing data

Adaptive bandwidth kernel density estimation for next generation sequencing data

... our analysis shows that the choice of the ker- nel function – Gaussian, square, or triangle – has little influence on tuning or test-set probabilities, the choice does impact the computational resources needed to ...

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