Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Author: Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian
Tübinger Autor(en):
Demidov, German
Ossowski, Stephan
Published in: European Journal of Human Genetics (2024), Bd. 32, H. 2, S. 200-208
Verlagsangabe: London : Springernature
Language: English
Full text: http://dx.doi.org/10.1038/s41431-023-01478-7
ISSN: 1018-4813
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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