题    目: Harnessing alternative polyadenylation and tandem repeat to understand the genetic basis of human diseases
报告人: 崔亚 博士
美国加州大学尔湾分校
时  间: 3月26日（周三）13:00-14:00
地    点: 线上（Zoom会议），会议号：88254454866，密码：cqbcqb，链接：
https://us06web.zoom.us/j/88254454866?pwd=BeMLztqDfkAX15Epfcgi2TYaeRNB3J.1
主持人: 韩敬东 教授

摘要:
Tandem Repeat (TR) variations are underutilized in medical diagnostics despite their potential impact on human traits and diseases. We recently developed the Tandem Repeat Genome Aggregation Database (TR-gnomAD; Cell 2024), which includes data on 0.86 million TRs from 338,963 diverse individuals. Utilizing TR-gnomAD as a control, our analysis of approximately 3, 000 undiagnosed patients has identified several TR variants potentially linked to disease phenotypes. Additionally, I will also introduce our work on 3′aTWAS (alternative polyadenylation transcriptome-wide association), which has been used to uncover numerous APA-linked risk genes for human complex diseases.

报告人简介：

崔亚博士2018年毕业于中国科学院生物物理研究所，师从陈润生院士。2018-至今，先后在美国贝勒医学院和加州大学尔湾分校李蔚教授实验室任博士后、项目科学家和研究助理教授，从事选择性多聚腺苷酸化（APA）和非编码串联重复（TR）突变在人类复杂疾病中的致病机制研究。崔亚博士曾以第一作者发表多篇论文，最近，崔亚博士以第一作者（兼共同通讯）的身份将相关研究成果发表于国际著名期刊Cell和Nature Genetics。