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Related Concept Videos

Phase Diagrams02:39

Phase Diagrams

A phase diagram combines plots of pressure versus temperature for the liquid-gas, solid-liquid, and solid-gas phase-transition equilibria of a substance. These diagrams indicate the physical states that exist under specific conditions of pressure and temperature and also provide the pressure dependence of the phase-transition temperatures (melting points, sublimation points, boiling points). Regions or areas labeled solid, liquid, and gas represent single phases, while lines or curves represent...
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The phase of a given substance depends on the pressure and temperature. Thus, plots of pressure versus temperature showing the phase in each region provide considerable insights into the thermal properties of substances. Such plots are known as phase diagrams. For instance, in the phase diagram for water (Figure 1), the solid curve boundaries between the phases indicate phase transitions (i.e., temperatures and pressures at which the phases coexist).
Phase Diagram01:24

Phase Diagram

A phase diagram is a graphical representation of the physical states of a substance under different conditions of temperature and pressure. It shows the boundaries between solid, liquid, and gas phases and the conditions at which these phases coexist in equilibrium. An area in a phase diagram represents a single phase, whereas lines or phase boundaries represent the equilibrium between two phases.In the phase diagram of water, the boundary line between the solid and liquid states illustrates...
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Exploring case-control genetic association tests using phase diagrams.

Wentian Li1, Young Ju Suh, Yaning Yang

  • 1The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA. wli@nslij-genetics.org

Computational Biology and Chemistry
|September 13, 2008
PubMed
Summary
This summary is machine-generated.

A new phase diagram effectively distinguishes the power of two genetic association tests, Cochran-Armitage trend test (CAT0.5) and MAX2, based on allele frequencies and disequilibrium. This improves genetic analysis by clarifying test performance across different disease models.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
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Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Compares two genotype-based tests for case-control genetic analysis: Cochran-Armitage trend test (CAT0.5) and a maximization of Chi-square tests (MAX2).
  • CAT0.5 is optimal for multiplicative disease models, while MAX2 performs better for dominant/recessive models.

Purpose of the Study:

  • Introduce and define the CAT0.5-MAX2 phase diagram to visualize the power performance of these two tests.
  • Separate regions in the disease model space where MAX2 outperforms CAT0.5 from regions where CAT0.5 is more powerful.

Main Methods:

  • Developed a phase diagram by mapping the disease model space.
  • Utilized the difference in allele frequencies (delta(p)) and Hardy-Weinberg disequilibrium coefficients (delta(epsilon)) to define phase boundaries.
  • Determined phase boundaries using the angle tan(-1)(delta(p)/delta(epsilon)).

Main Results:

  • The CAT0.5-MAX2 phase diagram effectively separates test performance regions.
  • The angle derived from delta(p) and delta(epsilon) provides improved disease model selection compared to using delta(epsilon) alone.
  • Phase boundaries are clearly defined by the ratio of allele frequency differences and disequilibrium coefficient differences.

Conclusions:

  • Phase diagrams offer a graphical approach to understanding the power of genetic association tests.
  • This method aids in clarifying simulation schemes, summarizing case-control datasets, and inferring potential modes of inheritance.
  • The CAT0.5-MAX2 phase diagram enhances the interpretation of genetic analysis results.