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Chemical Diagnostics

Overview of attention for book
Cover of 'Chemical Diagnostics'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 325 Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases.
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    Chapter 326 The Role of Protein Structural Analysis in the Next Generation Sequencing Era
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    Chapter 327 Emerging Applications of Single-Cell Diagnostics
  5. Altmetric Badge
    Chapter 329 Next Generation Sequencing: Chemistry, Technology and Applications
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    Chapter 352 Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis
  7. Altmetric Badge
    Chapter 353 Mass Spectrometry in High-Throughput Clinical Biomarker Assays: Multiple Reaction Monitoring
  8. Altmetric Badge
    Chapter 354 Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases
  9. Altmetric Badge
    Chapter 413 Advances in MALDI Mass Spectrometry in Clinical Diagnostic Applications.
Attention for Chapter 325: Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases.
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Chapter title
Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases.
Chapter number 325
Book title
Chemical Diagnostics
Published in
Topics in current chemistry, May 2012
DOI 10.1007/128_2012_325
Pubmed ID
22576358
Book ISBNs
978-3-64-239941-1, 978-3-64-239942-8
Authors

Wei Zhang, Hong Cui, Lee-Jun C. Wong

Abstract

Recent development of high throughput, massively parallel sequencing (MPS or next generation sequencing, NGS) technology has revolutionized the molecular diagnosis of human genetic disease. The ability to generate enormous amount of sequence data in a short time at an affordable cost makes this approach ideal for a wide range of applications from sequencing a group of candidate genes, all coding regions (known as exome sequencing) to the entire human genome. The technology brings about an unprecedented application to the identification of the molecular basis of hard-to-diagnose genetic disorders. This chapter reviews the up-to-date published application of next generation sequencing in clinical molecular diagnostic laboratories. We also emphasize the various target gene enrichment methods and their advantages and shortcomings. Obstacles to compliance with regulatory authorities like CLIA/CAP in clinical settings are also briefly discussed.

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X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
 Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Malaysia 1 2%
Spain 1 2%
Unknown 46 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 21%
Student > Ph. D. Student 7 15%
Student > Bachelor 5 10%
Student > Master 5 10%
Professor > Associate Professor 4 8%
Other 7 15%
Unknown 10 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 50%
Medicine and Dentistry 8 17%
Biochemistry, Genetics and Molecular Biology 3 6%
Social Sciences 1 2%
Business, Management and Accounting 1 2%
Other 0 0%
Unknown 11 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 May 2012.
All research outputs
#18,306,425
of 22,665,794 outputs
Outputs from Topics in current chemistry
#117
of 148 outputs
Outputs of similar age
#126,173
of 163,547 outputs
Outputs of similar age from Topics in current chemistry
#1
of 1 outputs
Altmetric has tracked 22,665,794 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 148 research outputs from this source. They receive a mean Attention Score of 4.1. This one is in the 12th percentile – i.e., 12% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 163,547 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 9th percentile – i.e., 9% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them

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