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Article

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

Clinical genetics - 1 Aug 2023

Bonini Katherine E, Thomas-Wilson Amanda, Marathe Priya N, Sebastin Monisha, Odgis Jacqueline A, Di Biase Miranda, Kelly Nicole R, Ramos Michelle A, Insel Beverly J, Scarimbolo Laura, Rehman Atteeq U, Guha Saurav, Okur Volkan, Abhyankar Avinash, Phadke Shruti, Nava Caroline, Gallagher Katie M, Elkhoury Lama, Edelmann Lisa, Zinberg Randi E, Abul-Husn Noura S, Diaz George A, Greally John M, Suckiel Sabrina A, Horowitz Carol R, Kenny Eimear E, Wasserstein Melissa, Gelb Bruce D, Jobanputra Vaidehi

Abstract excerpt

Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first-tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs detected with GS in a diverse pediatric cohort from the NYCKidSeq program and highlight specific examples of its clinical impact. A total of 1052 children (0-21 years) with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37334874
DOI: 10.1111/cge.14365
PMCID: PMC10505482

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