SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits

Local genetic correlation quantifies the genetic similarity of complex traits in specific genomic regions. However, accurate estimation of local genetic correlation remains challenging, due to linkage disequilibrium in local genomic regions and sample overlap across studies. We introduce SUPERGNOVA,...

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Detalles Bibliográficos
Autores principales: Zhang, Yiliang, Lu, Qiongshi, Ye, Yixuan, Huang, Kunling, Liu, Wei, Wu, Yuchang, Zhong, Xiaoyuan, Li, Boyang, Yu, Zhaolong, Travers, Brittany G., Werling, Donna M., Li, James J., Zhao, Hongyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422619/
https://www.ncbi.nlm.nih.gov/pubmed/34493297
http://dx.doi.org/10.1186/s13059-021-02478-w
Descripción
Sumario:Local genetic correlation quantifies the genetic similarity of complex traits in specific genomic regions. However, accurate estimation of local genetic correlation remains challenging, due to linkage disequilibrium in local genomic regions and sample overlap across studies. We introduce SUPERGNOVA, a statistical framework to estimate local genetic correlations using summary statistics from genome-wide association studies. We demonstrate that SUPERGNOVA outperforms existing methods through simulations and analyses of 30 complex traits. In particular, we show that the positive yet paradoxical genetic correlation between autism spectrum disorder and cognitive performance could be explained by two etiologically distinct genetic signatures with bidirectional local genetic correlations. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-021-02478-w.

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