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

doi:10.1002/ajmg.a.63062

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Article

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

American journal of medical genetics. Part A - 1 Mar 2023

Odgis Jacqueline A, Gallagher Katie M, Rehman Atteeq U, Marathe Priya N, Bonini Katherine E, Sebastin Monisha, Di Biase Miranda, Brown Kaitlyn, Kelly Nicole R, Ramos Michelle A, Thomas-Wilson Amanda, Guha Saurav, Okur Volkan, Ganapathi Mythily, Elkhoury Lama, Edelmann Lisa, Zinberg Randi E, Abul-Husn Noura S, Diaz George A, Greally John M, Suckiel Sabrina A, Jobanputra Vaidehi, Horowitz Carol R, Kenny Eimear E, Wasserstein Melissa P, Gelb Bruce D

Abstract excerpt

The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in...

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Identifiers

PMID: 36563179
DOI: 10.1002/ajmg.a.63062
PMCID: PMC10266700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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