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Rare Diseases Epidemiology

Overview of attention for book
Cover of 'Rare Diseases Epidemiology'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 1 Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data
  3. Altmetric Badge
    Chapter 2 Rare Diseases Epidemiology Research
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    Chapter 3 Evidence-Based Medicine and Rare Diseases
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    Chapter 4 Prevention, Diagnosis and Services
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    Chapter 5 The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases
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    Chapter 6 Patient registries: utility, validity and inference.
  8. Altmetric Badge
    Chapter 7 Biobanking in Rare Disorders
  9. Altmetric Badge
    Chapter 8 Evaluation of the validity and utility of genetic testing for rare diseases.
  10. Altmetric Badge
    Chapter 9 Rare Diseases Epidemiology
  11. Altmetric Badge
    Chapter 10 Statistical Methods for the Geographical Analysis of Rare Diseases
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    Chapter 11 Clinical Trials and Rare Diseases
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    Chapter 12 A Regulatory Overview About Rare Diseases
  14. Altmetric Badge
    Chapter 13 Rare Diseases Epidemiology
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    Chapter 14 Rare Diseases Social Epidemiology: Analysis of Inequalities
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    Chapter 15 Quality of Life and Rare Diseases
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    Chapter 16 Cost of illness and economic evaluation in rare diseases
  18. Altmetric Badge
    Chapter 17 The Burden of Rare Cancers in Europe
  19. Altmetric Badge
    Chapter 18 Hereditary Channelopathies in Neurology
  20. Altmetric Badge
    Chapter 19 Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva
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    Chapter 20 The Prevalence of Congenital Anomalies in Europe
  22. Altmetric Badge
    Chapter 21 Rare Autoimmune Diseases
  23. Altmetric Badge
    Chapter 22 Epidemiology of Rare Anaemias in Europe
  24. Altmetric Badge
    Chapter 23 Inherited Metabolic Rare Disease
  25. Altmetric Badge
    Chapter 24 Rare Diseases Epidemiology
  26. Altmetric Badge
    Chapter 25 Creating a European Union Framework for Actions in the Field of Rare Diseases
  27. Altmetric Badge
    Chapter 26 National Plans and Strategies on Rare Diseases in Europe
  28. Altmetric Badge
    Chapter 27 Ethical Aspects on Rare Diseases
  29. Altmetric Badge
    Chapter 28 Advocacy Groups and Their Role in Rare Diseases Research
Attention for Chapter 8: Evaluation of the validity and utility of genetic testing for rare diseases.
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (69th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

Mentioned by

blogs
1 blog

Citations

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28 Dimensions

Readers on

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48 Mendeley
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Chapter title
Evaluation of the validity and utility of genetic testing for rare diseases.
Chapter number 8
Book title
Rare Diseases Epidemiology
Published in
Advances in experimental medicine and biology, August 2010
DOI 10.1007/978-90-481-9485-8_8
Pubmed ID
Book ISBNs
978-9-04-819484-1, 978-9-04-819485-8
Authors

Grosse SD, Kalman L, Khoury MJ, Grosse, Scott D., Kalman, Lisa, Khoury, Muin J., Scott D. Grosse, Lisa Kalman PhD, Muin J. Khoury MD, PhD, Lisa Kalman, Muin J. Khoury

Editors

Manuel Posada de la Paz, Stephen C. Groft

Abstract

The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a test's ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a test's ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a test is a measure of its usefulness in the clinic and resulting changes in clinical endpoints. In addition, the utility to individuals and families of genomic information, or personal utility, should be considered. This chapter identifies methodological and data issues involved in assessing each type of validity or utility. The validity and utility of a test must be considered in a specific context, which include diagnostic testing, newborn screening, prenatal carrier screening, and family or cascade screening. Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations.

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 %
United States 2 4%
Netherlands 1 2%
Unknown 45 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 19%
Student > Master 8 17%
Researcher 8 17%
Professor 5 10%
Other 3 6%
Other 8 17%
Unknown 7 15%
Readers by discipline Count As %
Medicine and Dentistry 18 38%
Biochemistry, Genetics and Molecular Biology 5 10%
Social Sciences 4 8%
Nursing and Health Professions 3 6%
Agricultural and Biological Sciences 3 6%
Other 7 15%
Unknown 8 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 17 March 2015.
All research outputs
#5,881,484
of 22,794,367 outputs
Outputs from Advances in experimental medicine and biology
#920
of 4,949 outputs
Outputs of similar age
#28,072
of 94,960 outputs
Outputs of similar age from Advances in experimental medicine and biology
#5
of 11 outputs
Altmetric has tracked 22,794,367 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 4,949 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one has done well, scoring higher than 81% of its peers.
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 94,960 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.