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Related Concept Videos

Classification of Illness01:17

Classification of Illness

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The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
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Classification of Systems-I01:26

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Linearity is a system property characterized by a direct input-output relationship, combining homogeneity and additivity.
Homogeneity dictates that if an input x(t) is multiplied by a constant c, the output y(t) is multiplied by the same constant. Mathematically, this is expressed as:
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Classification of Systems-II01:31

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Continuous-time systems have continuous input and output signals, with time measured continuously. These systems are generally defined by differential or algebraic equations. For instance, in an RC circuit, the relationship between input and output voltage is expressed through a differential equation derived from Ohm's law and the capacitor relation,
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
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Multi-class machine learning-based classification of SCID-related genetic variants.

Ali Şahin1, Gamze Sonmez2, Mehmet Karaselek3

  • 1Department of Emergency Medicine, Dr. Vefa Tanır Ilgın State Hospital, Konya, 42600, Türkiye.

Immunologic Research
|September 10, 2025
PubMed
Summary

Machine learning models can improve the interpretation of variants of uncertain significance (VUS) in severe combined immunodeficiency (SCID). The Random Forest model demonstrated high accuracy in classifying SCID-associated genetic variants.

Area of Science:

  • Genetics and Genomics
  • Computational Biology
  • Immunology

Background:

  • Variants of uncertain significance (VUS) pose a diagnostic challenge in genetic testing for inborn errors of immunity like severe combined immunodeficiency (SCID).
Keywords:
Inborn Errors of ImmunityMachine LearningSevere Combined ImmunodeficiencyVariant Classification

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  • Existing computational tools show inconsistencies, often requiring costly wet-lab validation.