血脂异常
精密医学
自闭症谱系障碍
外显子组测序
鉴定(生物学)
自闭症
外显子组
个性化医疗
医学
模式
生物信息学
生物
遗传学
基因
精神科
内科学
病理
突变
疾病
社会科学
社会学
植物
作者
Yuan Luo,Alal Eran,Nathan Palmer,Paul Avillach,Ami Levy‐Moonshine,Peter Szolovits,Isaac S. Kohane
出处
期刊:Nature Medicine
[Springer Nature]
日期:2020-08-10
卷期号:26 (9): 1375-1379
被引量:79
标识
DOI:10.1038/s41591-020-1007-0
摘要
The promise of precision medicine lies in data diversity. More than the sheer size of biomedical data, it is the layering of multiple data modalities, offering complementary perspectives, that is thought to enable the identification of patient subgroups with shared pathophysiology. In the present study, we use autism to test this notion. By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism. Integration of large datasets of familial whole-exome sequencing, neurodevelopmental gene expression, electronic health records and healthcare claims led to the identification of a subtype of autism spectrum disorder that is associated with lipid dysregulation.
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