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Updated: May 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The clinical implementation of whole genome sequencing: a conversation with seven scientific experts
1Laboratory for Advanced Molecular Diagnostics, Department of Pathology & Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada. jlerner-ellis@mtsinai.on.ca
Abstract:
This commentary is based on the key note address given by Jordan Lerner-Ellis at the annual symposium of the Society for the Study of Inborn Errors of Metabolism, held in Geneva, Switzerland in August 2011. The content of the address was developed from a series of discussions with seven clinicians and medical geneticists, all having a long-time interest in genetic testing and genomic medicine (the interviews were not intended to be a forum for the introduction of new data). All participants were asked to offer their views on five questions: the benefits of using whole genome sequencing (WGS) in the clinic; the corresponding risks; the limitations on its wider use; the interviewees' particular interests in using WGS in their practice; and projected timelines for successful adoption in clinical medicine.
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