医学遗传前沿
senzhao聚焦医学遗传与人类遗传的最新进展， 关注遗传学在医药卫生市场中的价值。 讨论学术问题，探索转化机遇。 解析遗传密码，促进人类健康。
| Publishes | Monthly | Episodes | 43 | Founded | 2 years ago |
|---|---|---|---|---|---|
| Language |  Vietnamese | Number of Listeners | Category | Science |
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Latest Episodes
本期节目围绕“LoF 不致病的理由”展开，从 ACMG的 PVS1 证据出发，梳理了看似致病的蛋白截断变异（PTVs）如何在多种遗传补偿机制下被“挽救”，包括是否发生NMD、转录本选择等，并重点介绍我们发表于 Genes & Diseases（www.sciencedirect.com/science/article/pii/S2352304226000656）的最新研究，提出一种此前未被纳入变异解释体系的机制——splice rescue：PTV 通过引入隐性剪接位点，触发 i... more
本期节目，聊一聊人类 DNA 中的‘复读机’， 短串联重复（short tandem repeat, STR），即 1-6bp 的连续重复序列。我们分别探讨 STR 在进化中的发生及其生物学意义、STR 的基因型检测手段、STR 扩增与疾病的关系及机制、STR 扩增相关疾病的治疗进展。希望大家在临床遇到疑难的神经肌肉疾病时，警惕 STR 的可能性，并且有机会一起探索前沿的治疗方案～
相关链接
串联重复在人群中的分布：10.1038/s41586-025-09886-z
串联重复的毒性机制：... more
随着 AI 技术的飞速迭代，在前 AI 时代生活与工作的点滴记忆已经成为了时代的眼泪，特此在本期节目中记录这段有趣的历史。本期节目从本人2017 年刚刚入坑生信开始回忆，到 2022 年底 chatGPT 横空出世，到 AI 一步步迭代至今。我也对比了 chatGPT 初生和今天的语言水平，并讨论如今如何更好地驾驭 AI。
相关链接
我弟的 Vibe coding 教程：github.com/liyupi/ai-guide/tree/main
github copilot：... more
群体遗传学研究可以说是我们人类遗传学皇冠上的明珠，‘测通每一个人类’也是人类遗传学界的美好愿景。然而，这个愿景也让我们今天的群体遗传研究的雪球越滚越大，资源越来越集中，普通研究者越来越难参与其中。本期节目，我们来盘点一下今天的群体遗传研究已经卷到什么程度了，下一步的趋势是什么，应该如何破局～
一、经典 GWAS：卷到统计极限之后，开始卷表型
背靠背发表的 Nature Genetics 工作提示，GWAS 不再满足于“病例 vs 对照”，而是通过深度学习从 MRI 中提取连续端表型，并结合超... more
Reviews
- 不错的节目
主持人的问题非常专业！知识含量很高，希望继续下去！
Apple Podcasts5pacojiang1994
China2 years ago - 非常好的播客
学到了很多！
Apple Podcasts5forredtzhaoChina2 years ago
Chart Rankings
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Apple Podcasts | #175 | China/Science |
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| Listeners per Episode | Gender Skew | Location | |||
|---|---|---|---|---|---|
| Interests | Professions | Age Range | |||
| Household Income | Social Media Reach | ||||
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医学遗传前沿 launched 2 years ago and published 43 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.
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