ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

Kaplun, L; Krautz-Peterson, G; Neerman, N; Stanley, C; Hussey, S; Folwick, M; McGarry, A; Weiss, S; Kaplun, A

Kaplun, L (通讯作者)，Variantyx Inc, Framingham, MA 01701 USA.

FRONTIERS IN GENETICS, 2023; 14 ():

Abstract

Technological advances in Next-Generation Sequencing dramatically increased clinical efficiency of genetic testing, allowing detection of a wide varie......

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