Functional annotation of variants from healthy individuals

The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome sca...

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Bibliographic Details
Main Authors: Jean Lee, Sung Eun Hong
Format: Article
Language:English
Published: BioMed Central 2019-12-01
Series:Genomics & Informatics
Subjects:
Online Access:http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf
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