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報(bào)告題目：Local genetic correlation via knockoffs removes confounding due to cross-trait assortative mating

主講人：馬詩(shī)洋 副研究員（上海交通大學(xué)）

時(shí)間：2024年10月25日（周五）10:00 a.m.

地點(diǎn)：北院卓遠(yuǎn)樓305會(huì)議室

主辦單位：統(tǒng)計(jì)與數(shù)學(xué)學(xué)院

摘要：Local genetic correlation analysis is an important tool for identifying genetic loci with shared biology across traits. Recently Border et al. have shown that the results of these analyses are confounded by cross-trait assortative mating (xAM) leading to many false positive findings. Here we describe LAVA-Knock, a local genetic correlation method that builds off an existing genetic correlation method, LAVA, and augments it by generating synthetic data in a way that preserves local and long-range linkage disequilibrium (LD), allowing us to reduce the confounding induced by xAM. We show in simulations based on a realistic xAM model and in GWAS applications for 630 trait pairs that LAVA-Knock can greatly reduce the bias due to xAM relative to LAVA. Furthermore, we show a significant positive correlation between the reduction in local genetic correlations and estimates in the literature of cross-mate phenotype correlations; in particular, pairs of traits that are known to have high cross-mate phenotype correlation values have a significantly higher reduction in the number of local genetic correlations compared with other trait pairs. A few representative examples include education and intelligence, education and alcohol consumption, and attention-deficit hyperactivity disorder and depression. These results suggest that LAVA-Knock can reduce confounding due to both short range LD but also long-range LD induced by xAM.

主講人簡(jiǎn)介：

馬詩(shī)洋，上海交通大學(xué)醫(yī)學(xué)院/數(shù)學(xué)科學(xué)學(xué)院副研究員，博士生導(dǎo)師，2023年入選國(guó)家海外青年高層次人才計(jì)劃，上海市海外高層次人才計(jì)劃，參與科技部重點(diǎn)研發(fā)項(xiàng)目。2019年獲美國(guó)羅切斯特大學(xué)統(tǒng)計(jì)學(xué)博士學(xué)位，之后在哥倫比亞大學(xué)生物統(tǒng)計(jì)系著名統(tǒng)計(jì)遺傳學(xué)家Iuliana Ionita-Laza教授的指導(dǎo)下從事博士后研究工作，2022年底全職回國(guó)加入上海交通大學(xué)醫(yī)學(xué)院。主要研究方向?yàn)榻y(tǒng)計(jì)遺傳學(xué)和生物醫(yī)學(xué)統(tǒng)計(jì)。近年來(lái)在國(guó)際知名期刊發(fā)表論文14篇，其中第一作者論文（含共一）7篇，發(fā)表的雜志包括美國(guó)國(guó)家科學(xué)院院刊PNAS，基因組學(xué)頂級(jí)期刊Genome Biology，美國(guó)人類遺傳學(xué)雜志American Journal of Human Genetics，Nature Communications，和生物統(tǒng)計(jì)學(xué)權(quán)威期刊Statistics in Medicine等，單篇文章引用量上百次，研究工作被四大醫(yī)學(xué)期刊、Nature子刊等重要期刊引用。主持上海市啟明星項(xiàng)目（揚(yáng)帆專項(xiàng)），上海市衛(wèi)健委衛(wèi)生行業(yè)臨床研究專項(xiàng)和上海交通大學(xué)“交大之星”計(jì)劃醫(yī)工交叉研究基金。