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Updated: Jun 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Molecular technologies open new clinical genetic vistas
Laird Jackson1, Reed E Pyeritz
1Department of Obstetrics and Gynecology, Drexel University College of Medicine and Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19102, USA. laird.jackson@drexelmed.edu
Abstract:
Two recent studies published in Science Translational Medicine (Lo et al., 2010; Bell et al., 2011) demonstrate the potential of applying the latest genome-sequencing technologies to preconception carrier testing and noninvasive prenatal genetic diagnosis. These studies shine new light on old ethical, legal, and social concerns associated with genetic technology and deserve careful discussion.
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