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

European Journal of Human Genetics, Published online: 19 October 2023; doi:10.1038/s41431-023-01478-7Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Source: European Journal of Human Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Robin Wijngaard German Demidov Luke O ’Gorman Jordi Corominas-Galbany Burcu Yaldiz Wouter Steyaert Elke de Boer Lisenka E. L. M. Vissers Erik-Jan Kamsteeg Rolph Pfundt Hilde Swinkels Amber den Ouden Iris B. A. W. te Paske Richarda M. de Voer Laurence Fa Source Type: research