Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Titel:
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Auteur:
Gardner, Eugene J. Sifrim, Alejandro Lindsay, Sarah J. Prigmore, Elena Rajan, Diana Danecek, Petr Gallone, Giuseppe Eberhardt, Ruth Y. Martin, Hilary C. Wright, Caroline F. FitzPatrick, David R. Firth, Helen V. Hurles, Matthew E.