학술논문
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Document Type
Article
Author
Wijngaard, R.; O’Gorman, L.; Corominas-Galbany, J.; Yaldiz, B.; Steyaert, W.; de Boer, E.; Vissers, L.E.L.M.; Kamsteeg, E.-J.; Pfundt, R.; Swinkels, H.; den Ouden, A.; te Paske, I.B.A.W.; de Voer, R.M.; Gilissen, C.; Demidov, G.; Ossowski, S.; Faivre, L.; Denommé-Pichon, A.-S.; Duffourd, Y.; Vitobello, A.; Chevarin, M.; Straub, V.; Töpf, A.; van der Kooi, A.J.; Magrinelli, F.; Rocca, C.; Hanna, M.G.; Vandrovcova, J.; Laurie, S.
Source
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2023)
Subject
Language
English
ISSN
14765438
10184813
10184813