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[PDF] Top 20 Application of Next-generation Sequencing in Clinical Molecular Diagnostics

Has 10000 "Application of Next-generation Sequencing in Clinical Molecular Diagnostics" found on our website. Below are the top 20 most common "Application of Next-generation Sequencing in Clinical Molecular Diagnostics".

Application of Next-generation Sequencing in Clinical Molecular Diagnostics

Application of Next-generation Sequencing in Clinical Molecular Diagnostics

... project, in 10–20 days. Numerous different methods are employed in which NGS is being applied for identifying causal gene variant in the rare ...Whole-exome sequencing (WES), Whole-genome ... See full document

15

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

... Because of the clinical features overlapping among the EAs and the novel phenotype presented in this family, four known genes, CACNA1A, KCNA1, CACNB4, SLC1A3, responsible for four EAs, were sequenced ... See full document

5

Development of a new pharmacogenomics system for lung cancer based in next generation sequencing

Development of a new pharmacogenomics system for lung cancer based in next generation sequencing

... A medicina de precisão é a nova aposta para a melhoria dos serviços médicos. Esta abordagem pretende utilizar dados genómicos, ambientais e relativos ao estilo de vida para mais facilmente prever se um indivíduo se ... See full document

14

DNA qualification workflow for next generation sequencing of histopathological samples.

DNA qualification workflow for next generation sequencing of histopathological samples.

... creation of a coordinated biobank for the collection of samples from all cancer patients that included neoplastic and associated local and distant normal ...methods of snap frozen tissues stored at ... See full document

8

A trial of karyotypic microdissection as an enrichment pathway for next-generation sequencing

A trial of karyotypic microdissection as an enrichment pathway for next-generation sequencing

... availability of cytogenetic tools to microdissect single chromosomes and enrichment methods which permit their amplification give us the means to focus on individual chromosomal ...kind of trial, as well as ... See full document

104

Development of a low bias method for characterizing viral populations using next generation sequencing technology.

Development of a low bias method for characterizing viral populations using next generation sequencing technology.

... One of the main limitations of using Illumina sequencing arises when attempting to determine whether a base pair that does not match the reference sequence is due to sequencing error or viral ... See full document

9

Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.

Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.

... Subgroups of lung adenocarcinomas are characterized by specific driver molecular alterations that also represent potential therapeutic ...Mutations in the tyrosine kinase domain of the EGFR ... See full document

6

Comparative genome-wide polymorphic microsatellite markers in Antarctic penguins through next generation sequencing

Comparative genome-wide polymorphic microsatellite markers in Antarctic penguins through next generation sequencing

... plification of microsatellite loci from closely related spe- cies, a procedure whose applicability decreases as the evo- lutionary divergence among taxa ...case of bird species, for which microsatellite ... See full document

12

Quantifying Next Generation Sequencing Sample Pre-Processing Bias in HIV-1 Complete Genome Sequencing

Quantifying Next Generation Sequencing Sample Pre-Processing Bias in HIV-1 Complete Genome Sequencing

... steps of the sample preparation can impact the recovery of variant frequencies and that this mostly affects the prevalence estimates of minority ...useful in large-scale phylodynamics studies ... See full document

14

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

... group of hematopoietic disorders which arise from genetically altered myeloid stem or progenitor ...overproduction of mature myeloid cells, which is due to deregulated cell-autonomous proliferation and ... See full document

18

Common contaminants in next-generation sequencing that hinder discovery of low-abundance microbes.

Common contaminants in next-generation sequencing that hinder discovery of low-abundance microbes.

... high-throughput sequencing can be done using either DNA or ...For clinical applications or to discover novel microbes during an outbreak, this is a key consideration–especially with the introduction ... See full document

8

Identification and characterization of microRNAs in normal equine tissues by Next Generation Sequencing.

Identification and characterization of microRNAs in normal equine tissues by Next Generation Sequencing.

... characterization of miRNAs in major organs including liver, skeletal muscle, and large intestine has significant clinical relevance to important equine ...34% of horses undergoing an ... See full document

10

Comparison of Sample Preparation Methods Used for the Next-Generation Sequencing of Mycobacterium tuberculosis.

Comparison of Sample Preparation Methods Used for the Next-Generation Sequencing of Mycobacterium tuberculosis.

... widespread application of next-generation sequencing (NGS) technologies to the study of microbial genomes has led to a substantial increase in the number of studies ... See full document

14

Unveiling distribution patterns of freshwater phytoplankton by a next generation sequencing based approach.

Unveiling distribution patterns of freshwater phytoplankton by a next generation sequencing based approach.

... comparisons of results from very different aquatic ...analyses in different laboratories around the ...done in an identical way regardless of operator and laboratory, this significantly ... See full document

10

Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.

Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.

... evaluation of global patterns of gene expression – mRNA levels – from healthy and diseased ...assessment of changes in expression of many genes – up to the whole genome level – can then ... See full document

8

Full transcriptome analysis of early dorsoventral patterning in zebrafish.

Full transcriptome analysis of early dorsoventral patterning in zebrafish.

... the molecular interactions that lead to the establishment of the major body axes during embryogenesis is one of the main goals of developmental ...basis of these patterning processes, ... See full document

13

The accuracy, feasibility and challenges of sequencing short tandem repeats using next-generation sequencing platforms.

The accuracy, feasibility and challenges of sequencing short tandem repeats using next-generation sequencing platforms.

... improvements in next-generation sequencing (NGS) platforms have revolutionized genetic and genomic research by increasing the throughput and lowering the cost of DNA ...millions ... See full document

14

Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.

Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.

... one of the main events contributing to genetic and phenotypic diversity, which receives less attention than SNP and large structural ...knowledge of INDEL variation in chicken genome, we applied ... See full document

11

Microbial contamination in next generation sequencing: implications for sequence-based analysis of clinical samples.

Microbial contamination in next generation sequencing: implications for sequence-based analysis of clinical samples.

... advantage of a well-controlled study performed by the Genetic European Variation in Health and Disease (GEU- VADIS) consortium ...[13,26]. In their pilot study, ERP000177, RNA from five Ep- ... See full document

6

Diversity and specificity of the marine sponge microbiome as inspected by next generation sequencing

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

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