疾病
多基因风险评分
医学遗传学
基因组学
维加维斯
自闭症
医学
生物信息学
遗传学
生物
精神科
基因组
病理
单核苷酸多态性
基因型
基因
作者
Honey V. Reddi,Hannah Wand,Birgit Funke,Michael T. Zimmermann,Matthew Lebo,Emily Qian,Brian H. Shirts,Ying Zou,Bing M. Zhang,Nancy C. Rose,Aya Abu‐El‐Haija
标识
DOI:10.1016/j.gim.2023.100804
摘要
Complex health related disorders, including some forms of cardiovascular disease, diabetes, asthma, autism, and cancer, arise through the relative contributions of genetic, environmental, and lifestyle factors over long periods of time. Unlike monogenic disorders, complex disorders develop via a cumulative effect across many genomic loci, each conferring small individual risks. Polygenic risk scores (PRSs)1 combine these small individual variant effects to predict risk for developing complex disorders (Box 1) and may be combined with monogenic disease risk and nongenetic risk factors in an integrated risk model to predict disease risk more accurately.
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