Authors: Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath, Wolfram Höps, Peer Arts, Michelle de Groot, Marjan M. Weiss, Ronny Derks, Amber den Ouden, Simone van den Heuvel, Raoul G.J. Timmermans, Timon van Leeuwen, Jordi Corominas Galbany, Jos Smits, Lot Snijders Blok, Tom Hofste, Marloes Steehouwer, Nick Zomer, Quentin Sabbagh, Erik-Jan Kamsteeg, Dorien Lugtenberg, Ermanno A. Bosgoed, Richard J. Rodenburg, Su Ming Sun, Arjen R. Mensenkamp, Marjolijn J.L. Ligtenberg, Nicole de Leeuw, Debby M.E.I. Hellebrekers, Alexander P.A. Stegmann, Aimée D.C. Paulussen, Marinus J. Blok, Wendy A.G. van Zelst-Stams, Arthur van den Wijngaard, Helger G. Yntema, Christian Gilissen, Alexander Hoischen, Lisenka E.L.M. Vissers
This preprint from Radboud Netherlands highlights the potential for PacBio WGS “as a feasible and effective first-tier test for rare disease diagnostics.”
Journal: medRxiv
DOI: 10.64898/2026.01.13.26343759
Year: 2026
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