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Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project [version 2; peer review: 2 approved] by Ernesto Lowy-Gallego, Susan Fairley, Xiangqun Zheng-Bradley, Magali Ruffier, Laura Clarke, Paul Flicek, The 1000 Genomes Project Consortium
Published 2019-12-01
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Genome sequencing as a generic diagnostic strategy for rare disease by Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers
Published 2024-02-01
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