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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Abstract:

Human retrocopies, i.e. mRNA transcripts benefitting from the LINE‐1 machinery for retrotransposition, may have specific consequences for genomic testing. NGS techniques allow the detection of such mobile elements but they may be misinterpreted as genomic duplications or be totally overlooked. We report eight observations of retrocopies detected during diagnostic NGS analyses of targeted gene panels, exome, or genome sequencing. For seven cases, while an exons‐only copy number gain was called...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/humu.23845

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Role:
Author
ORCID:
0000-0003-0538-0981
Publisher:
Wiley
Journal:
Human Mutation More from this journal
Volume:
40
Issue:
11
Pages:
1993-2000
Publication date:
2019-07-12
Acceptance date:
2019-06-17
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Pmid:
31230393
Language:
English
Keywords:
Pubs id:
pubs:1022950
UUID:
uuid:cd711e74-7f3f-4c57-8f98-d470fdaa90ff
Local pid:
pubs:1022950
Source identifiers:
1022950
Deposit date:
2019-07-02

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