Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

Abul-Husn, N. S., Marathe, P. N., Kelly, N. R., Bonini, K. E., Sebastin, M., Odgis, J. A., Abhyankar, A., Brown, K., Di Biase, M., Gallagher, K. M., Guha, S., Ioele, N., Okur, V., Ramos, M. A., Rodriguez, J. E., Rehman, A. U., Thomas-Wilson, A., Edelmann, L., Zinberg, R. E., … Gelb, B. D. (2023). Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genetics in Medicine, 25(9), 100880. https://doi.org/10.1016/j.gim.2023.100880
Authors:
Noura S Abul-Husn
Priya N Marathe
Nicole R Kelly
Katherine E Bonini
Monisha Sebastin
Jacqueline A Odgis
Avinash Abhyankar
Kaitlyn Brown
Miranda Di Biase
Katie M Gallagher
Saurav Guha
Nicolette Ioele
Volkan Okur
Michelle A Ramos
Jessica E Rodriguez
Atteeq U Rehman
Amanda Thomas-Wilson
Lisa Edelmann
Randi E Zinberg
George A Diaz
John M Greally
Vaidehi Jobanputra
Sabrina A Suckiel
Carol R Horowitz
Melissa P Wasserstein
Eimear E Kenny
Bruce D Gelb
Affiliated Authors:
Vaidehi Jobanputra
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Genetic Research on BRCA Mutations and Cancer Risk (OpenAlex Topic)
Genetic Predisposition to Disease (MeSH)
Pathology, Molecular (MeSH)
Author Keywords:
clinical genetics
genetic testing
genomic medicine
genomics
molecular diagnostic test
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Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100880
PMID:
37158195
DOI:
10.1016/j.gim.2023.100880
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record

Record Created: