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Updated: Jul 11, 2025

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全基因组检测位于拼接分支点和正规拼接受体位点之间的人类内部AG-gain变异

Peng Zhang1, Matthieu Chaldebas1, Masato Ogishi1

  • 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.

Proceedings of the National Academy of Sciences of the United States of America
|November 6, 2023
PubMed
概括

一个新的计算工具,AGAIN,精确地识别了破坏基因拼接并导致疾病的遗传变异. 该工具有助于诊断罕见的遗传疾病,通过精确确定与拼接缺陷相关的内基AG增益变异.

关键词:
在AG-gain中获得.分支点分支点分支点分支点人类遗传学人类遗传学内部变种是一种内部变种.拼接 拼接 拼接 拼接

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