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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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...
Polygenic Traits01:18

Polygenic Traits

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...
Next-generation Sequencing03:00

Next-generation Sequencing

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.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism

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Related Experiment Video

Updated: May 11, 2026

A Telemetric, Gravimetric Platform for Real-Time Physiological Phenotyping of Plant–Environment Interactions
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Published on: August 5, 2020

Expression quantitative trait loci: present and future.

Alexandra C Nica1, Emmanouil T Dermitzakis

  • 1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|May 8, 2013
PubMed
Summary
This summary is machine-generated.

Expression quantitative trait loci (eQTLs) research identifies genetic variants influencing gene expression. This review explores eQTL studies, their role in gene regulation, and interpreting genome variation.

Keywords:
expression quantitative trait locigeneticsregulation

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Area of Science:

  • Genomics
  • Molecular Biology
  • Genetics

Background:

  • Recent years have seen significant advancements in analyzing genome function, particularly concerning genome variation.
  • Expression quantitative trait loci (eQTLs) studies have emerged as a key area, focusing on genetic variants that account for variations in gene expression levels.

Purpose of the Study:

  • To review the primary research directions in eQTL studies.
  • To discuss the implications of eQTL research for understanding gene regulation and interpreting genome-wide association studies (GWAS).

Main Methods:

  • This review synthesizes findings from numerous eQTL studies.
  • It focuses on the methodologies employed in identifying genetic variants associated with gene expression variation.

Main Results:

  • eQTL studies are crucial for characterizing functional sequence variation.
  • They provide insights into fundamental gene regulatory mechanisms.

Conclusions:

  • eQTL research is vital for bridging the gap between genotype and phenotype.
  • It enhances the interpretation of GWAS and advances our understanding of genome function and variation.