Related Experiment Video
Updated: Nov 5, 2025
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.4K
Total genetic contribution assessment across the human genome
Ting Li1, Zheng Ning1,2, Zhijian Yang1
1Biostatistics Group, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, China.
Nature Communications
|May 15, 2021
Summary
This study introduces a novel method for assessing a gene's total genetic contribution to human traits. This approach provides a comprehensive genome-wide atlas of genetic influences across various complex traits.
Area of Science:
- Human Genetics
- Complex Trait Genetics
- Bioinformatics
Background:
- Quantifying the genetic effects of all human loci on the phenome is challenging.
- Existing methods often require thresholding genetic association signals, potentially missing contributions.
Purpose of the Study:
- To introduce a unified modeling technique for assessing the total genetic contribution of genes or variants.
- To provide a consistent method for evaluating genetic effects without signal thresholding.
Main Methods:
- Developed a unified modeling technique for Total Genetic Contribution Assessment (TGCA).
- Applied genome-wide TGCA across five UK Biobank phenotype domains.
- Investigated tissue-specificity of genetic contributions and its relation to gene expression.
Main Results:
- TGCA successfully identified key loci for various traits, including HLA for medical conditions, WNT16 for bone density, MC1R for tanning, and CHRNA3 for smoking.
- Tissue-specificity analysis revealed associations between brain tissues and mental health traits.
- Found that tissue-specific gene expression shares a genetic basis with total genetic contributions.
Conclusions:
- TGCA offers a robust method for quantifying the overall genetic effect of loci on the human phenome.
- The developed technique can generate a genome-wide atlas of genetic contributions for complex traits.
- Identified specific genetic loci and tissue associations relevant to human health and behavior.
More Related Videos
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
19.1K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.2K
Related Concept Videos
01:28Human Genetics
974
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...
The complex relationship between genetics and psychology is observable through common biological components such...
974
01:11Genome-wide Association Studies-GWAS
14.8K
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...
GWAS does not require the identification of the target gene involved in...
14.8K
02:02Genomics
38.3K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
38.3K
01:18Polygenic Traits
67.4K
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...
67.4K
01:23Behavioral Genetics and Its Designs
721
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...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
721
01:06Heritability
399
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"...
399