Characteristics of rare and private deletions identified in phenotypically normal individuals.
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ABSTRACT:
SUBMITTER: Shimojima K
PROVIDER: S-EPMC5597573 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Characteristics of rare and private deletions identified in phenotypically normal individuals.
Shimojima Keiko K Yamamoto Toshiyuki T
Human genome variation 20170914
Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions. ...[more]
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