{"type":"rich","version":"1.0","provider_name":"Transistor","provider_url":"https://transistor.fm","author_name":"萌喵读文献-生物信息学","title":"今日生物信息学最高分文献 - 2025-11-13","html":"<iframe width=\"100%\" height=\"180\" frameborder=\"no\" scrolling=\"no\" seamless src=\"https://share.transistor.fm/e/fd48d78c\"></iframe>","width":"100%","height":180,"duration":162,"description":"科研喵使用AI读文献，祝你效率百倍，访问labcat.com.cn下载。本期关注发表在Nature（影响因子50.5）上的重要研究\"GREGoR: accelerating genomics for rare diseases\"。该研究介绍了罕见疾病基因组学研究的重大突破，尽管全球有1/20的人受罕见疾病影响，但超过一半患者仍缺乏明确诊断。GREGoR联盟通过研究3000多个家庭、7500多名患者，应用新兴基因组学技术，为这些\"外显子阴性\"病例提供解答。这项工作不仅加速了罕见疾病诊断技术的临床应用，还通过AnVIL平台向全球研究者开放数据，推动国际合作。这项研究为未来罕见疾病基因组学奠定了坚实基础，为无数家庭带来希望。","thumbnail_url":"https://img.transistorcdn.com/38WU46uKrju37cyiLrKcVSktFL4vxBb_oTgbpM_2CRw/rs:fill:0:0:1/w:400/h:400/q:60/mb:500000/aHR0cHM6Ly9pbWct/dXBsb2FkLXByb2R1/Y3Rpb24udHJhbnNp/c3Rvci5mbS8zOGU2/ZmEyYWE0MDZkNGFj/NWMzNGY5ZmU4YTk0/ZTBlNS5qcGc.webp","thumbnail_width":300,"thumbnail_height":300}