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

A. Sorlin,E. Tisserant,J. Thevenon,Y. Duffourd,P. Kuentz,V. Carmignac, V. Cormier-Daire,C. Michot,V. Malan, M. Beaujard,F. Morice-Picard, C. Rooryck-Thambo,C. Vincent-Delorme,T. Smol, E. Boudry-Labis,S. Hadj Rabia, A. Phan,M. Cordier,M. Till,D. Sanlaville, J. St-Onge, C. Thauvin-Robinet, A. Mosca Boidron,R. Olaso,A. Boland, J. Deleuze,B. Keren,L. Faivre,J. Riviere, P. Callier,P. Vabres

EUROPEAN JOURNAL OF HUMAN GENETICS(2019)

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