ACMG-oriented multi-source heterogeneous human gene variation data management and annotation method and device

The invention discloses an ACMG-oriented multi-source heterogeneous human gene variation data management and annotation method and device. The method comprises the following steps: uniformly converting storage modes and formats of multi-source heterogeneous data related to ACMG pathogenic variation...

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Bibliographic Details
Main Authors LI JINCHEN, ZHAO GUIHU, WANG ZHENG, LI BIN
Format Patent
LanguageChinese
English
Published 02.01.2024
Subjects
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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