Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
Sjors Middelkamp, Judith M. Vlaar, Jacques C. Giltay, Jerome Korzelius, Nicolle J.M. Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Francesca Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin P. J. G. Cuppen
This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.
Genome Medicine · Dec 1, 2019Peer-reviewedGenomics