題    目: Harnessing alternative polyadenylation and tandem repeat to understand the genetic basis of human diseases
報告人: 崔亞 博士
美國加州大學爾灣分校
時  間: 3月26日（周三）13:00-14:00
地    點: 線上（Zoom會議），會議号：88254454866，密碼：cqbcqb，鍊接：
https://us06web.zoom.us/j/88254454866?pwd=BeMLztqDfkAX15Epfcgi2TYaeRNB3J.1
主持人: 韓敬東 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.

報告人簡介：

崔亞博士2018年畢業于中國科學院生物物理研究所，師從陳潤生院士。2018-至今，先後在美國貝勒醫學院和加州大學爾灣分校李蔚教授實驗室任博士後、項目科學家和研究助理教授，從事選擇性多聚腺苷酸化（APA）和非編碼串聯重複（TR）突變在人類複雜疾病中的緻病機制研究。崔亞博士曾以第一作者發表多篇論文，最近，崔亞博士以第一作者（兼共同通訊）的身份将相關研究成果發表于國際著名期刊Cell和Nature Genetics。