Detection of mosaic variants using genome sequencing in a large pediatric cohort

Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas‐Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul‐Husn, N. S., Diaz, G. A., … Gelb, B. D. (2022). Detection of mosaic variants using genome sequencing in a large pediatric cohort. American Journal of Medical Genetics Part A, 191(3), 699–710. Portico. https://doi.org/10.1002/ajmg.a.63062
Authors:
Jacqueline A Odgis
Katie M Gallagher
Atteeq U Rehman
Priya N Marathe
Katherine E Bonini
Monisha Sebastin
Miranda Di Biase
Kaitlyn Brown
Nicole R Kelly
Michelle A Ramos
Amanda Thomas-Wilson
Saurav Guha
Volkan Okur
Mythily Ganapathi
Lama Elkhoury
Lisa Edelmann
Randi E Zinberg
Noura S Abul-Husn
George A Diaz
John M Greally
Sabrina A Suckiel
Vaidehi Jobanputra
Carol R Horowitz
Eimear E Kenny
Melissa P Wasserstein
Bruce D Gelb
Affiliated Authors:
Mythily Ganapathi
Vaidehi Jobanputra
Columbia Affiliation:
Subjects:
Spasms, Infantile (MeSH)
Author Keywords:
genome sequencing
genomic medicine
mosaicism
pediatric genetics
whole genome sequencing
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Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63062
PMID:
36563179
DOI:
10.1002/ajmg.a.63062
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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