SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits-Reference-Cited by-同舟云学术

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

Published:2021-09-07 Issue:1 Volume:22 Page:
ISSN:1474-760X
Container-title:Genome Biology
language:en
Short-container-title:Genome Biol

Author:

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^ORCID

Abstract

AbstractLocal 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.

Funder

National Institutes of Health

National Science Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s13059-021-02478-w.pdf

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