Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

Bonini, K. E., Thomas‐Wilson, A., Marathe, P. N., Sebastin, M., Odgis, J. A., Di Biase, M., Kelly, N. R., Ramos, M. A., Insel, B. J., Scarimbolo, L., Rehman, A. U., Guha, S., Okur, V., Abhyankar, A., Phadke, S., Nava, C., Gallagher, K. M., Elkhoury, L., Edelmann, L., … Jobanputra, V. (2023). Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. Clinical Genetics, 104(2), 210–225. Portico. https://doi.org/10.1111/cge.14365
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
Affiliated Authors:
Vaidehi Jobanputra
Author Keywords:
clinical genomics
cnv
copy number variation
diagnostic testing
diverse populations
genome sequencing
pediatric genomics
Publication Type:
Article
Unique ID:
10.1111/cge.14365
PMID:
Publication Date:
Data Source:
PubMed

Record Created: