.png){kind=icon}
.png){kind=icon}
Return
Open problems in human trait genetics
.png){kind=icon}
OA
AI
DOI：10.1186/s13059-022-02697-9.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and yet, the genetics of most traits is still poorly understood. In this review, we highlight the major open problems that need to be solved, and by discussing these challenges provide a primer to the field. We cover general issues such as population structure, epistasis and gene-environment interactions, data-related issues such as ancestry diversity and rare genetic variants, and specific challenges related to heritability estimates, genetic association studies, and polygenic risk scores. We emphasize the interconnectedness of these problems and suggest promising avenues to address them.
Keywords:
Statistical genetics
Human phenotypes
Complex human traits
GWAS
Genome-wide association studies
PRS
Polygenic risk scores
Heritability
Missing heritability
Population structure
Diversity
Rare variants
GxG
Epistatis
Non-additive genetic effects
GxE
Gene-environment interactions
Linkage disequilibrium
Causal variants
Recessive effects
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
G
IF:
9.4
Papers:
6.4K
Citations:
7.3W
Organization
View more organizations