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Heritability

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,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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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Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Updated: Jun 19, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Finding the missing heritability of complex diseases.

Teri A Manolio¹, Francis S Collins, Nancy J Cox

¹National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892-2152, USA. manoliot@mail.nih.gov

|October 9, 2009

Summary

This summary is machine-generated.

Genome-wide association studies (GWAS) find many genetic variants for complex diseases. However, these explain only a small part of heritability, prompting research into the

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics and genomics
Human complex diseases
Genetic architecture

Background:

Genome-wide association studies (GWAS) have identified numerous genetic variants linked to complex human diseases and traits.
Current GWAS findings explain only a small fraction of familial disease clustering, leaving a significant portion of heritability unexplained ('missing heritability').

Purpose of the Study:

To investigate potential sources contributing to the 'missing heritability' in complex human diseases.
To propose advanced research strategies beyond current GWAS to better understand disease genetics.

Main Methods:

Review and analysis of existing GWAS data and literature.
Exploration of novel genetic and non-genetic factors influencing complex traits.
Development of extended research methodologies for genetic studies.

Main Results:

Identified several potential contributors to missing heritability, including rare variants, gene-gene interactions, and environmental factors.
Proposed a multi-faceted research approach integrating genomics with other biological and clinical data.

Conclusions:

Understanding the full genetic basis of complex diseases requires moving beyond standard GWAS.
Future research should incorporate diverse methodologies to uncover the complete picture of heritability, enabling improved disease prevention and treatment strategies.