2023,
Genetics in Medicine.
DOI:
10.1016/j.gim.2023.100880
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 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
Abstract:
No abstract available.
Related Links:
2023-07-31 22:04:00
半面阳光:
#paper doi: https://doi.org/10.1016/j.gim.2023.100880, Genetics in Medicine, 2023, Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.这篇文章比较了基因组测序（GS）与靶向基因panel测序（TGP）两种方式在儿科先证者查因中的患者获益情况。结果显示与基因Panel检测相比，GS检测可以使得儿科先证者的诊断提升一倍，但这一结果目前并未在所有人群中得到证实。