基因组测序-话题@MedSci

#基因组测序#

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基因组测序

2020-05-29

梅斯管理员 (审核中...)

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#基因组测序# #罕见病#

NEJM：基因组测序为近30%漏检的罕见病患者提供了合理诊断，将罕见病诊断率提高8%

2024-06-28发表于上海

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#基因组图谱# #图形泛基因组# #基因组测序#

Nat Commun：利用图形泛基因组图谱可灵敏识别罕见遗传病的结构变异，并降低错误率

2024-03-09发表于上海

zhouqu_8 (审核中...)

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#基因组测序#

JNNP:全基因组测序对早发性痴呆患者的临床影响

2022-09-11

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#基因组测序#

Blood：全基因组测序揭示CAR-19 T细胞治疗淋巴瘤失败的潜在复杂基因组特征

2022-08-20

zhouqu_8 (审核中...)

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#基因组测序#

Nature子刊：单细胞全基因组测序揭示人类心脏在衰老过程中的突变

2022-08-14

zhouqu_8 (审核中...)

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#基因组测序#

Nature发布15万人全基因组测序研究成果，揭示多个罕见变异的性状关联

2022-08-10

zhouqu_8 (审核中...)

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#基因组测序#

JAMA子刊：“扩大基因组测序+听力筛查”在新生儿重症监护室中的应用

2022-07-14

zhouqu_8 (审核中...)

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#基因组测序#

Br J Dermatol：全基因组测序揭示隆突性皮肤纤维肉瘤的基因组改变

2022-05-10

zhouqu_8 (审核中...)

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#基因组测序#

Brain | 深圳儿童医院：基因组测序有望成为我国癫痫患儿基因检测的首选方法

2022-03-31

zhouqu_8 (审核中...)

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#基因组测序#

Neurology：通过单例全外显子组和全基因组测序有效诊断遗传性脑白质疾病

2022-02-21

zhouqu_8 (审核中...)

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#基因组测序#

JAMA Neurology：脑脊液下一代基因组测序技术在肿瘤检测中的应用

2021-11-16

zhouqu_8 (审核中...)

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#基因组测序#

ARD：基因组测序和功能分析确定与系统性红斑狼疮相关MAP4K3/GLK种系和体细胞突变

2021-10-17

zhouqu_8 (审核中...)

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#基因组测序#

用生命“赌”病因，全基因组测序是否能终结求医苦旅？

2021-07-24

zhouqu_8 (审核中...)

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#基因组测序#

Eur Urol：通过循环肿瘤DNA的低通量全基因组测序阐明前列腺癌治疗期间的特性

2021-07-08

zhouqu_8 (审核中...)

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#基因组测序#

Nat Commun：大规模全基因组测序首次确定发酵食品中乳酸菌与肠道菌群之间的关系

2021-04-11

zhouqu_8 (审核中...)

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#基因组测序#

NEJM：全基因组测序 vs细胞遗传学检测在髓系肿瘤患者风险分层中的应用

2021-03-13

zhouqu_8 (审核中...)

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#基因组测序#

Nat Commun：全基因组测序揭示与肿瘤复发和脊索瘤特异性存活相关的基因组改变

2021-02-07

zhouqu_8 (审核中...)

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#基因组测序#

外媒：美国辉瑞等疫苗受益于中国科学家对病毒全基因组测序

2020-12-09

zhouqu_8 (审核中...)

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#基因组测序#

满足百万级高深度全基因组测序需求，华大智造发布基因组学新解决方案

2020-11-06

zhouqu_8 (审核中...)

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#基因组测序#

Nature Medicine：基因组测序可提前预测食管癌风险，特别是存在癌前病变的患者

2020-09-10

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