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Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen by David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat, Sian Morgan
Published 2023-09-01
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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data by Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David R. Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijuskovic
Published 2025-01-01
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