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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。

PublishesMonthlyEpisodes41Founded2 years ago
Language
Vietnamese
Number of ListenersCategory
Science

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Artwork for 医学遗传前沿

Latest Episodes

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

本期节目,为大家盘点 2025 年医学遗传的十大前沿进展~排名仅代表个人意见,欢迎批评指正!

10|全新 ACMG

• ACMG guideline,十年之约

• 本次排名担任候任主委,期待明年正式发布!

9|罗氏 SBX 测序仪(Sequencing by Expansion)

• 打破吉尼斯世界记录的测序➕分析速度

• NEJM paper:www.nejm.org/doi/10.1056/NEJMc2512825

8|Illumina 黑科技

... more

本期节目,我们聊一聊体细胞突变(somatic mutations)这一近年迅速发展的研究领域,讨论它如何在健康组织中产生、累积,且如何与非肿瘤疾病息息相关。我们介绍了传统 Duplex-Seq 到 NanoSeq 等超低错误率测序技术是如何突破技术瓶颈,让研究者能够在正常组织中“看到”极低频突变的真实样貌。虽然这些技术的应用,我们近年来发现了体细胞突变与多种复杂疾病的关联,包括免疫疾病、炎症性疾病、心血管病、神经退行性疾病,以及女性健康中的子宫内膜异位症等。

术语列表

• Somati... more

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Reviews

5.0 out of 5 stars from 16 ratings
  • 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 Podcasts
    5
    pacojiang1994
    China2 years ago
  • 非常好的播客

    学到了很多!

    Apple Podcasts
    5
    forredtzhao
    China2 years ago

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#231
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医学遗传前沿 launched 2 years ago and published 41 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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