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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Uncertainty in Measurement: Accuracy and Precision03:37

Uncertainty in Measurement: Accuracy and Precision

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Scientists typically make repeated measurements of a quantity to ensure the quality of their findings and to evaluate both the precision and the accuracy of their results. Measurements are said to be precise if they yield very similar results when repeated in the same manner. A measurement is considered accurate if it yields a result that is very close to the true or the accepted value. Precise values agree with each other; accurate values agree with a true value. 
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Uncertainty: Overview00:59

Uncertainty: Overview

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In analytical chemistry, we often perform repetitive measurements to detect and minimize inaccuracies caused by both determinate and indeterminate errors. Despite the cares we take, the presence of random errors means that repeated measurements almost never have exactly the same magnitude. The collective difference between these measurements - observed values - and the estimated or expected value is called uncertainty. Uncertainty is conventionally written after the estimated or expected value.
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Uncertainty: Confidence Intervals00:54

Uncertainty: Confidence Intervals

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The confidence interval is the range of values around the mean that contains the true mean. It is expressed as a probability percentage. The interpretation of a 95% confidence interval, for instance, is that the statistician is 95% confident that the true mean falls within the interval. The upper and lower limits of this range are known as confidence limits. The confidence limits for the true mean are estimated from the sample's mean, the standard deviation, and the statistical factor...
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Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

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Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Uncertainty in Genomics Impacts Precision Medicine.

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Interpreting genetic and genomic information accurately is crucial for precision medicine. Understanding the history and implications of uncertainty in genetic testing is key to advancing medical practice.

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Area of Science:

  • Genetics
  • Genomics
  • Medical Practice

Background:

  • Genetic and genomic testing offer advanced insights but present interpretation challenges.
  • Increasingly refined human genome examination heightens the likelihood of encountering data uncertainty.

Purpose of the Study:

  • To explore the concept of uncertainty in genetic and genomic testing.
  • To inform approaches for confronting and managing uncertainty in medical genetics.
  • To discuss the future implications of uncertainty in precision medicine.

Main Methods:

  • Historical analysis of uncertainty in genetic testing.
  • Conceptual review of genotype interpretation in precision medicine.

Main Results:

  • The history of uncertainty provides context for current challenges.
  • Proper genotype interpretation is fundamental to the success of precision medicine.

Conclusions:

  • Addressing uncertainty in genetic data interpretation is essential for realizing the full potential of precision medicine.
  • Future advancements in precision medicine rely on robust methods for managing genetic information uncertainty.