Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.

BACKGROUND: Despite clinically demonstrated accuracy in next generation sequencing (NGS) data, many clinical laboratories continue to confirm variants with Sanger sequencing, which increases cost of testing and turnaround time. Several studies have assessed the accuracy of NGS in detecting single nu...

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Publicado en:	Clinical Chemistry Vol. 69; no. 10; pp. 1155 - 1163
Autores principales:	Choate, Lauren A., Koleilat, Alaa, Harris, Kimberley, Vidal-Folch, Noemi, Guenzel, Adam, Newman, Jessica, Peterson, Brenda J., Peterson, Sandra E., Rice, Christopher S., Train, Laura J., Hasadsri, Linda, Marcou, Cherisse A., Moyer, Ann M., Baudhuin, Linnea M.
Formato:	Journal Article
Publicado:	Oxford University Press / USA Oct2023
Acceso en línea:	Ver este registro en EBSCOhost