Open problems in human trait genetics

Nadav Brandes

doi:10.1186/s13059-022-02697-9

2022-06-20

Nadav Brandes *

Omer Weissbrod

Michal Linial

DOI：10.1186/s13059-022-02697-9

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摘要

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.

Keyword:

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

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Genome Biology

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9.4

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6.4K

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Harvard University

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Hebrew University of Jerusalem

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