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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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,...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

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Related Experiment Video

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Published on: November 3, 2010

Genetic and epigenetic contribution to complex traits.

Helena Kilpinen1, Emmanouil T Dermitzakis

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

Human Molecular Genetics
|September 15, 2012
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances functional genomics, improving non-coding genome annotation. Understanding epigenetic variation alongside DNA sequence variation is crucial for interpreting complex human traits and their inheritance.

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Area of Science:

  • Genomics
  • Epigenetics
  • Human Genetics

Background:

  • Next-generation sequencing (NGS) has driven significant progress in functional genomics, leading to a vast increase in available genomic data from human disease and population studies.
  • Functional sequencing assays now allow interrogation of both the transcriptome and epigenome, enhancing the annotation of the non-coding, regulatory genome.
  • Improved annotation aids in interpreting the functional impact of genetic variants linked to complex human traits.

Purpose of the Study:

  • To review the role of epigenetic variation in the context of DNA sequence variation.
  • To discuss the contribution of epigenetic variation to complex phenotypes.
  • To highlight the importance of understanding normal variation in cellular phenotypes and their transgenerational inheritance.

Main Methods:

  • This review synthesizes current knowledge on epigenetic variation.
  • It integrates findings from functional genomics, transcriptomics, and epigenomics.
  • The review considers the interplay between DNA sequence variation and epigenetic modifications.

Main Results:

  • Advances in sequencing technologies have accelerated the annotation of the regulatory genome.
  • Epigenetic modifications represent a key source of variation in cellular phenotypes.
  • Understanding epigenetic variation is essential for interpreting the functional consequences of genetic variants in complex traits.

Conclusions:

  • Epigenetic variation plays a significant role in human complex traits and their inheritance.
  • Integrating epigenetic and DNA sequence variation data is critical for a comprehensive understanding of human health and disease.
  • Further research into the mechanisms of transgenerational epigenetic inheritance is warranted.