标题： 人类特征遗传学中的开放问题 显示英文标题

标题： Open Problems in Human Trait Genetics

摘要： 人类特征的遗传研究彻底改变了我们对个体间变异的理解，并为生物学、医学和其他科学领域的众多突破打开了大门。 然而，这一研究领域的最终承诺仍未完全实现。 在本综述中，我们强调了需要解决的主要开放问题，以改善我们对人类特征遗传变异的理解，并通过讨论这些挑战提供该领域的入门指南。 我们的重点是具体的分析问题，这些问题在概念和技术上都具有重要意义。 我们涵盖了遗传研究中的普遍问题，如种群结构、上位作用和基因-环境相互作用，数据相关的问题，如种族多样性与罕见遗传变异，以及与遗传力估计、遗传关联研究和多基因风险评分相关的具体挑战。 我们强调了这些开放问题之间的相互关联性，并提出了有希望的解决途径。 显示英文摘要

摘要： Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and opened the door for numerous breakthroughs in biology, medicine and other scientific fields. And yet, the ultimate promise of this area of research is still not fully realized. In this review, we highlight the major open problems that need to be solved to improve our understanding of the genetic variation underlying human traits, and by discussing these challenges provide a primer to the field. Our focus is on concrete analytical problems, both conceptual and technical in nature. We cover general issues in genetic studies such as population structure, epistasis and gene-environment interactions, data-related issues such as ethnic 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 open problems and suggest promising avenues to address them.