EPISODE · Feb 1, 2025 · 21 MIN
EP25 2024医学遗传年度盘点
from 医学遗传前沿
由于领域内的青年教师们年终过于繁忙，本期节目还是由我自己给大家进行2024年的医学遗传年度盘点，分享三个这一年领域内的重要突破~1. 非编码RNA突变导致孟德尔疾病RNU4-2基因: 10.1038/s41586-024-07773-7CHASERR基因: 10.1056/nejmoa24007182. 串联重复变异的东山再起人类串联重复的金标准构建: 10.1038/s41587-024-02225-z人类串联重复数据库TR-gnomAD: 10.1016/j.cell.2024.03.0043. 人类单细胞测序图谱https://www.nature.com/collections/jccbbdahji若对播客有任何问题或者投稿，请联系我 [email protected]，小红书/微博：@撸森森同时也可以加入听友qq群：975276283，谢谢Thanks♪(･ω･)ﾉ在小宇宙查看该单集文稿
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EP25 2024医学遗传年度盘点
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