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

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 re...

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Bibliographic Details
Main Authors:	Chatron, N, Cassinari, K, Quenez, O, Baert-Desurmont, S, Bardel, C, Buisine, M, Calpena, E, Capri, Y, Galbany, J, Diguet, F, Edery, P, Isidor, B, Labalme, A, Le Caignec, C, Lévy, J, Lecoquierre, F, Lindenbaum, P, Pichon, O, Rollat-Farnier, P, Simonet, T, Saugier-Veber, P, Tabet, A, Toutain, A, Wilkie, A, Lesca, G, Sanlaville, D, Nicolas, G, Schluth-Bolard, C
Format:	Journal article
Language:	English
Published:	Wiley 2019

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

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