Detection of mosaic Copy-Number Variations from Whole-Exome Sequencing in mosaic pigmentation disorders using XHMM and a custom SNP approach

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TitreDetection of mosaic Copy-Number Variations from Whole-Exome Sequencing in mosaic pigmentation disorders using XHMM and a custom SNP approach
Type de publicationJournal Article
Year of Publication2019
AuteursSorlin A., Tisserant E., Thevenon J., Duffourd Y., Kuentz P., Carmignac V., Cormier-Daire V., Michot C., Malan V., Beaujard M., Morice-Picard F., Rooryck-Thambo C., Vincent-Delorme C., Smol T., Boudry-Labis E., S. Rabia H, Phan A., Cordier M., Till M., Sanlaville D., St-Onge J., Thauvin-Robinet C., A. Boidron M, Olaso R., Boland A., Deleuze J., Keren B., Faivre L., Riviere J., Callier P., Vabres P.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination114
Date PublishedJUL
Type of ArticleMeeting Abstract
ISSN1018-4813