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EmptyMusic Productions3000-12-2701 min聊聊Sci2026-01-1018 minÜbers Ohr: Sehen im Alter - eine Inforeihe2025-12-2046 min医学遗传前沿
医学遗传前沿EP39 医学遗传 2025 十大前沿盘点本期节目,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:https://www.nejm.org/doi/10.1056/NEJMc25128258|Illumina 黑科技 5-base sequencing (A/T/C/G + CpG 甲基化):https://www.illumina.com/science/genomics-research/articles/5-base-solution.html scRNA-seq ,低成本,无需微流控:https://www.illumina.com/destination/single-cell-solution.html Constellation “星座映射”:https://www.illumina.com/science/genomics-research/articles/constellation-mapped-read-technology.html7|国产“ONT” 纳米孔平台 华大、齐碳、普译等陆续进入 Q20 准确度时代 国内长读长平台首次形成体系级竞争6|多组学提升诊断率 RNA-seq(剪接、弱表达、假阴性补充) 甲基化(Episign) 蛋白质组(Olink / SomaScan) ]从传统 WES/WGS 的 25–40% → 多组学可达 50–70%5|N-of-1 Therapy 反义 oligo(ASO) AAV gene addition Prime/CRISPR base editing 多例在数月内完成“从致病机理 → 模型 → 药物 → 给药” 全新临床试验模式:🔗 www.cell.com(25)00397-04|Biobank 接力UK Biobank (UKB) — 2025 里程碑 Data Release v20:全代谢组 (~250 metabolites)、成像 10 万例 490,640 例 WGS 发布 多组学 = 代谢组 + 蛋白组 + 成像 + CHIP + 环境 不能再仅仅依赖 UKB 灌水文章!3|深度学习预测错义变异 AlphaMissense(2023 Science):https://www.science.org/doi/10.1126/science.adg7492 popEVE(2025 Nature Genetics):https://www.nature.com/articles/s41588-025-02400-12|AlphaGenome 基因组语言模型: https://www.alphagenomedocs.com/tutorials/index.html1|大预言模型/GPT PhenoGemini,临床表型 + 基因解释:https://phenogemini.org/ DeepRare,罕见病辅助诊断:https://arxiv.org/abs/2506.20430若对播客有任何问题或者投稿,或需要获得文字版音频总结,请联系我 zhaosen830@gmail.com,小红书/微博:@撸森森同时也可以添加微信zhaosen830进入听友交流群,谢谢Thanks♪(・ω・)ノ
2025-12-1429 min聊聊Sci2025-11-1329 minEverything Belongs: Living the Teachings of Richard Rohr Forward2025-11-071h 30With Purpose Podcast2025-10-2334 minTravel!2025-10-0813 minWolf Sybille2025-09-2452 minThe SME Growth Podcast by Wellmeadow2025-09-1839 minProteomics in Proximity2025-09-0945 minThe KOSU Daily2025-08-2611 minHER HEALTHY HUSTLE by The HER KLUB2025-07-1847 minzwischenschicht2025-06-2553 minGesundheitspolitische Gespräche2025-06-131h 00Gesundheitspolitische Gespräche2025-06-131h 00OphthalNews kompakt2025-04-3006 minEKG - Ein Konstruktives Gespräch2025-04-0536 minultrawizardsword2025-03-283h 45Retina View2025-01-3126 minProteomics in Proximity2025-01-2832 minGENOOMILINE2025-01-2613 minProteomics in Proximity2025-01-1748 minProteomics in Proximity2024-11-1356 minbonnFM2024-11-0206 minShifting Culture2024-10-0855 minOperation Karriere – der Podcast2024-10-0307 minEKG - Ein Konstruktives Gespräch2024-09-0632 minGesundheitspolitische Gespräche2024-09-0631 minGesundheitspolitische Gespräche2024-09-0631 minHER HEALTHY HUSTLE by The HER KLUB2024-08-0247 minNick Ray Ball\'s podcast2024-07-3109 min1 Liter mit ...2024-06-241h 35VU Library Live2024-04-0253 minProteomics in Proximity2024-03-0548 minPIK-FEIN2024-01-181h 30まりっぺのウクレレタイム2023-11-1829 minProteomics in Proximity2023-11-1643 minÄrzte der Zukunft2023-11-1551 minkma Kompass - Der Podcast für alle, die das Krankenhaus der Zukunft gestalten.2023-11-1439 minWkdSounds™ - Vennootschap2023-11-042h 28Proteomics in Proximity2023-10-2644 minbonnFM2023-10-2303 minProteomics in Proximity2023-10-0342 minSCHARFE WELLE - der Bonner Epilepsie-Podcast2023-09-2849 minMix And Talk Sessions2023-09-121h 33Proteomics in Proximity2023-07-2736 minProteomics in Proximity2023-05-3144 minAging-US2023-05-2403 minNeurodegeneration kompakt2023-05-0328 minEKG - Ein Konstruktives Gespräch2023-04-2145 min🎸How to Uke and how to Free Play Songwriting!🎶2023-03-0409 min🎸How to Uke and how to Free Play Songwriting!🎶2023-02-2506 min🎸How to Uke and how to Free Play Songwriting!🎶2023-02-1104 minThe Interior Collective2023-02-1039 min🎸How to Uke and how to Free Play Songwriting!🎶2023-02-0410 min🎸How to Uke and how to Free Play Songwriting!🎶2023-01-2806 min🎸How to Uke and how to Free Play Songwriting!🎶2023-01-2109 minForschung heute – der PRO RETINA Infocast2023-01-1818 min🎸How to Uke and how to Free Play Songwriting!🎶2023-01-1415 min🎸How to Uke and how to Free Play Songwriting!🎶2023-01-0709 min🎸How to Uke and how to Free Play Songwriting!🎶2023-01-0615 minEYEFOX Fachgespräche2023-01-0516 min🎸How to Uke and how to Free Play Songwriting!🎶2022-12-2618 min🎸How to Uke and how to Free Play Songwriting!🎶2022-12-2303 min🎸How to Uke and how to Free Play Songwriting!🎶2022-12-1705 min🎸How to Uke and how to Free Play Songwriting!🎶2022-12-1007 min🎸How to Uke and how to Free Play Songwriting!🎶2022-12-0309 min🎸How to Uke and how to Free Play Songwriting!🎶2022-11-2609 minA Well-Designed Business® | Interior Design  Business Podcast2022-11-1559 minNative Circles2022-11-1534 min🎸How to Uke and how to Free Play Songwriting!🎶2022-11-1305 minTHPO Talk2022-09-021h 25The Ribozone2022-06-2633 minÜbergabe - Pflege-Podcasts2022-06-111h 04Podcast UKM Sepak Bola UNAIR2021-09-0637 minWillkommen zu das Reborujo2021-08-241h 52OokTown - The Ukulele Podcast2021-03-291h 45Der IFZ Digital Banking Podcast2021-03-1019 minBESTZEIT2021-02-051h 38VIÉGASCAST2020-12-041h 43A Beer With2020-07-272h 12The COVID-19 LST Report2020-05-2907 minMEDIZIN ASPEKTE - Gesundheitsnachrichten im Podcast // Herz, Kreislauf, Augen, Diabetes, Schmerzen..2019-06-1402 minAgainst the Grain - The Podcast2016-12-1840 minRadio Stimme - Einzelbeiträge2011-04-0600 minelement e filmproduktion gmbh2008-04-2400 min