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Related Concept Videos

Heritability01:06

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...
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Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...
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Polygenic Traits01:18

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Beyond missing heritability: prediction of complex traits.

Robert Makowsky1, Nicholas M Pajewski, Yann C Klimentidis

  • 1Department of Biostatistics, University of Alabama at Birmingham, Alabama, United States of America. makowsky@uab.edu

Plos Genetics
|May 10, 2011
PubMed
Summary
This summary is machine-generated.

Genomic prediction models explain significant height variation in training data but show limited predictive power for new individuals. Further improvements are needed for personalized medicine applications.

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Area of Science:

  • Genetics
  • Genomic Prediction
  • Human Height

Background:

  • Genomic technology advances but struggles to explain phenotypic variation.
  • Limited application of genetic data in personalized medicine due to the
  • missing heritability
  • .

Purpose of the Study:

  • To explore genomic prediction of human height using various statistical approaches and sample sizes.
  • To assess how explained genetic variance translates to predicting unobserved phenotypes.

Main Methods:

  • Utilized Framingham Heart Study data for training and validation.
  • Varied statistical methods, number of single nucleotide polymorphisms (SNPs), validation schemes, and training sample sizes.
  • Modeled thousands of SNPs concurrently to explain height variation.

Main Results:

  • Achieved high variance explained in training datasets (h(2) up to 0.83, R(2) up to 0.96).
  • Observed significantly lower variance explained in validation samples (0.15–0.36).
  • Results exceed previous studies using fewer markers but leave room for improvement given trait heritability (∼0.80).

Conclusions:

  • Genomic prediction models show promise but have limitations in predicting individual phenotypes.
  • The gap between training and validation performance highlights challenges in translating genetic findings to clinical applications.
  • Further research is necessary to improve the accuracy of genomic prediction for complex traits.