講座編號(hào)：jz-yjsb-2022-y005

講座題目：Single-cell gene fusion detection by scFusion

主 講 人：席瑞斌 北京大學(xué)

講座時(shí)間：2022年4月8日（星期五）上午10:00

講座地點(diǎn)：騰訊會(huì)議，會(huì)議ID：791 762 313

參加對(duì)象：數(shù)學(xué)與統(tǒng)計(jì)學(xué)院全體教師及研究生

主辦單位：數(shù)學(xué)與統(tǒng)計(jì)學(xué)院、研究生院

主講人簡(jiǎn)介：

席瑞斌，北京大學(xué)數(shù)學(xué)科學(xué)學(xué)院、統(tǒng)計(jì)科學(xué)中心研究員，長(zhǎng)聘副教授，博士生導(dǎo)師。 2009年畢業(yè)于美國(guó)圣路易斯華盛頓大學(xué)，同年以助理研究員身份加入哈佛大學(xué)醫(yī)學(xué)院從事生物醫(yī)學(xué)信息學(xué)方面的研究。2012年9月加入北京大學(xué)。席瑞斌的主要研究方向是生物信息、高維統(tǒng)計(jì)、網(wǎng)絡(luò)分析、貝葉斯統(tǒng)計(jì)、生物醫(yī)學(xué)大數(shù)據(jù)、基因組大數(shù)據(jù)及腫瘤的精準(zhǔn)醫(yī)學(xué)。席瑞斌近年來(lái)有40多篇文章發(fā)表于PNAS, Science Translational Medicine等高水平的學(xué)術(shù)期刊。席瑞斌先后主持或參與過(guò)科技部973項(xiàng)目、國(guó)家重點(diǎn)研發(fā)項(xiàng)目、基金委重點(diǎn)項(xiàng)目及基金委面上項(xiàng)目等多個(gè)科研基金項(xiàng)目。

主講內(nèi)容：

Gene fusions can play important roles in tumor initiation and progression. While fusion detection so far has been from bulk samples, full-length single-cell RNA sequencing (scRNA-seq) offers the possibility of detecting gene fusions at the single-cell level. However, scRNA-seq data have a high noise level and contain various technical artifacts that can lead to spurious fusion discoveries. Here, we present a computational tool, scFusion, for gene fusion detection based on scRNA-seq. We evaluate the performance of scFusion using simulated and five real scRNA-seq datasets and find that scFusion can efficiently and sensitively detect fusions with a low false discovery rate. In a T cell dataset, scFusion detects the invariant TCR gene recombinations in mucosal-associated invariant T cells that many methods developed for bulk data fail to detect; in a multiple myeloma dataset, scFusion detects the known recurrent fusion IgH-WHSC1, which is associated with overexpression of the WHSC1 oncogene. Our results demonstrate that scFusion can be used to investigate cellular heterogeneity of gene fusions and their transcriptional impact at the single-cell level.