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Bart van der Sanden on Muck Rack

Bart van der Sanden

As seen in: The New England Journal of Medicine, The American Journal of Human Genetics
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Articles

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics Original

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By Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath
| The New England Journal of Medicine Verified
Notes Lisenka E.L.M. Vissers can be contacted at lisenka.vissers@radboudumc.nl. Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath, and Wolfram Höps, Peer Arts and Michelle de Groot, and Christian Gilissen, Alexander Hoischen, and Lisenka E.L.M. Vissers contributed equally to this letter. The views expressed in this letter are those of the authors and do not necessarily reflect those of the financing bodies or any other granting authority.
Open in Who Shared View Duplicates (2) Issue with article?

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

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By Bart van der Sanden, Christian S. Betz, Katharina Herzog, Esther Schamschula, Katharina Wimmer, Saranya Balachandran, Xiao Chen, Jordi Galbany, Raoul Timmermans, Ronny Derks, Malte Spielmann, Michael A. Eberle, Christian Gilissen, Lisenka E.L.M. Vissers, Johannes Zschocke, Alexander Hoischen, Inga Vater, Hanno J. Bolz
| The American Journal of Human Genetics Verified
Keywords long-read sequencing pseudogenes paralogs Paraphase variant calling haplotype phasing gene conversion Get full text access Log in, subscribe or purchase for full access. References 1. Karczewski, K.J. ∙ Francioli, L.C. ∙ Tiao, G. ... The mutational constraint spectrum quantified from variation in 141,456 humans Nature. 2020; 581:434-443 2. Chaisson, M.J.P. ∙ Sanders, A.D. ∙ Zhao, X. ... Multi-platform discovery of haplotype-resolved structural variation in human genomes Nat. Commun.
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