Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches

Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
Hazard Rate01:11

Hazard Rate

The hazard rate, also known as the hazard function or failure rate, is a statistical measure used to describe the instantaneous rate at which an event occurs, given that the event has not yet happened. From a probabilistic perspective, it represents the likelihood that a subject will experience the event in a very small time interval, conditional on surviving up to the beginning of that interval. In terms of frequency, the hazard rate can be viewed as the ratio of the number of events to the...
Relative Risk01:12

Relative Risk

Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
Hazard Ratio01:12

Hazard Ratio

The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial evaluating a...
Design Example: Analyzing Capacity Contours for Flood Risk Assessment01:17

Design Example: Analyzing Capacity Contours for Flood Risk Assessment

Flood risk assessment involves careful planning and analysis to ensure the safety of communities near water retention structures. Capacity contours are a vital tool in this process, as they illustrate the potential spread of water at specific levels in a given area. In the context of building a bund across a small valley, these contours play a critical role in evaluating the safety of nearby residential areas.In this example, the bund is intended to store stormwater in the valley. The engineers...
Odds Ratio01:09

Odds Ratio

The odds ratio (OR) is a statistical measure used extensively in epidemiology and research to quantify the strength of association between exposure and outcome across different groups. Unlike relative risk, which compares the probabilities of an event occurring, the odds ratio compares the odds of an event occurring in the exposed group to the odds of it occurring in the unexposed group. The odds, in this context, are calculated as the probability of the event happening divided by the...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

International journal of epidemiology·2011
Same author

The genetics of otosclerosis: pedigree studies and linkage analysis.

Advances in oto-rhino-laryngology·2007
Same author

Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.

The British journal of dermatology·2004
Same author

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

European journal of human genetics : EJHG·2003
Same author

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

Journal of medical genetics·2003
Same author

Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation.

The British journal of ophthalmology·2001
Same journal

Erratum to: Immunotherapeutic Approach to Cancer with Cutaneous DNA Vaccination.

Methods in molecular medicine·2015
Same journal

Methods for cancer gene therapy using tumor suppressor genes.

Methods in molecular medicine·2014
Same journal

Suppression of the human carcinoma phenotype by an antioncogene ribozyme.

Methods in molecular medicine·2014
Same journal

Methods for the use of stromal cells for therapeutic gene therapy.

Methods in molecular medicine·2014
Same journal

Methods for adenovirus-mediated gene transfer to synovium in vivo.

Methods in molecular medicine·2014
Same journal

Methods for gene transfer to synovium.

Methods in molecular medicine·2014
See all related articles

Related Experiment Videos

Risk analysis.

A P Read1

  • 1Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.

Methods in Molecular Medicine
|March 5, 2011
PubMed
Summary
This summary is machine-generated.

Genetic testing accuracy faces challenges, especially when direct mutation tests are unavailable. Family studies using linked markers and risk calculations are crucial for genetic disease diagnosis.

Related Experiment Videos

Area of Science:

  • Medical Genetics
  • Genetic Epidemiology

Background:

  • Genetic laboratory diagnoses involve inherent uncertainties, including potential laboratory errors.
  • Direct mutation testing is increasingly used but doesn't always equate to disease risk due to factors like variable expression and incomplete penetrance.

Purpose of the Study:

  • To highlight the complexities and limitations of genetic diagnosis.
  • To emphasize the necessity of risk calculation and family studies when direct mutation tests are not feasible.

Main Methods:

  • Discussion of limitations in current genetic diagnostic services.
  • Explanation of the role of linked markers in family studies for gene tracking.
  • Emphasis on the requirement for risk calculation in complex genetic cases.

Main Results:

  • Direct mutation tests are not always available or comprehensive for all genetic disorders.
  • Family studies with linked markers are essential for genetic disease tracking when direct tests fail.
  • Genetic risk calculation is indispensable in numerous diagnostic scenarios.

Conclusions:

  • Genetic diagnosis requires careful consideration of uncertainty and the limitations of available testing methods.
  • Family-based genetic analysis and risk assessment remain vital tools in medical genetics.
  • Addressing challenges in genetic testing is crucial for accurate patient diagnosis and counseling.