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

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 Rodriguez, Atteeq U. Rehman, Amanda Thomas‐Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Díaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa Wasserstein, Eimear E. Kenny, Bruce D. Gelb

2023Genetics in Medicine41 citationsDOIOpen Access PDF

Topics & Concepts

Ethnically diverseGeneticsGenomeGeneYield (engineering)Genetic testingMedicineComputational biologyBiologyPopulationMaterials scienceMetallurgyEnvironmental healthGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesBRCA gene mutations in cancer
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients | Litcius