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 | 38 | Founded | 2 years ago |
|---|---|---|---|---|---|
| Language |  ZH-CN | Number of Listeners | Category | Science |
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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
在本期节目中，由我为大家介绍DNA甲基化与机器学习在遗传病诊断中的应用。
从基础的表观遗传调控讲起，到机器学习如何帮助分析数百万个CpG位点，我们会一起了解人工智能如何改变临床诊断的精准度与速度。本期节目还特别介绍了 EpiSign平台——一种利用甲基化“表观指纹”辅助罕见病诊断的创新技术。它通过机器学习算法分析血液DNA甲基化模式，已能检测两百余种先天性神经发育障碍，显著提高了诊断率。我们也将讨论它的工作机制、临床成效、局限性，以及未来在表观遗传病、癌症早筛中的潜力。
参考文献
EpiS... more
本期节目，跟大家分享我刚刚发表在 American Journal of Human Genetics的新作：The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics。在本工作中，我们对四种临床常见组织进行了高达 900G 数据量的 RNA-seq，探究了不同测序深度对 RNA-seq 检出效果的影响，并制作了有用的资源供大家使用～
相关链接
文章链接（可免费下载 pdf）：www.s... more
本期节目，我们请到了来自浙江大学医学院附属邵逸夫医院妇产科的王昊教授，跟大家一起聊一聊细胞遗传学的历史与前沿进展，尤其是近期更新的ISCN (An International System for Human Cytogenomic Nomenclature)指南，帮助医学遗传检验相关的同事和老师遵循最新的国际标准进行临床报告和科研文章撰写～
专业名词与缩写中英文列表
• Cytogenomics细胞基因组学研究染色体结构与基因组功能之间关系的学科。
• G-band (Giemsa... more
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- 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 Podcasts5pacojiang1994China2 years ago - 非常好的播客
学到了很多！
Apple Podcasts5forredtzhaoChina2 years ago
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Apple Podcasts | #116 | China/Science |
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医学遗传前沿 launched 2 years ago and published 38 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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