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Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program |
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| Authors: | Katherine E. Bonini Amanda Thomas-Wilson Priya N. Marathe Monisha Sebastin Jacqueline A. Odgis Miranda Di Biase Nicole R. Kelly Michelle A. Ramos Beverly J. Insel Laura Scarimbolo Atteeq U. Rehman Saurav Guha Volkan Okur Avinash Abhyankar Shruti Phadke Caroline Nava Katie M. Gallagher Lama Elkhoury Lisa Edelmann Randi E. Zinberg Noura S. Abul-Husn George A. Diaz John M. Greally Sabrina A. Suckiel Carol R. Horowitz Eimear E. Kenny Melissa Wasserstein Bruce D. Gelb Vaidehi Jobanputra |
| Abstract: | |
| Keywords: | clinical genomics CNV copy number variation diagnostic testing diverse populations genome sequencing pediatric genomics |