@article{riquin:hal-04191468,
TITLE = {Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders},
AUTHOR = {Riquin, Kevin and Isidor, Bertrand and Mercier, Sandra and Nizon, Mathilde and Colin, Estelle and Bonneau, Dominique and Pasquier, Laurent and Odent, Sylvie and Le Guillou Horn, Xavier Maximin and Guyader, Gwena{\"e}l Le and Toutain, Annick and Meyer, Vincent and Deleuze, Jean-Fran{\c c}ois and Pichon, Olivier and Doco-Fenzy, Martine and B{\'e}zieau, St{\'e}phane and Cogn{\'e},
Benjamin},
URL = {https://hal.science/hal-04191468},
JOURNAL = {Journal of Medical Genetics},
PUBLISHER = {BMJ Publishing Group},
VOLUME = {61},
NUMBER = {1},
PAGES = {47-56},
YEAR = {2024},
MONTH = Jan, DOI = {10.1136/jmg-2023-109263},
KEYWORDS = {Central Nervous System Diseases ; Clinical Laboratory Techniques ; Genetic Research ; Genetic Testing ; Genomics},
PDF = {https://hal.science/hal-04191468/file/Riquin-et-al-2023-Integrating%20RNA-Seq%20into%20genome%20sequencing%20workflow%20enhance%20the%20analysis%20of%20structural%20variants%20causing%20neurodevelopmental%20disorders.pdf},
HAL_ID = {hal-04191468},
HAL_VERSION = {v1},
}