@article{colin:hal-04067649,
TITLE = {Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders},
AUTHOR = {Colin, Estelle and Duffourd, Yannis and Chevarin, Martin and Tisserant, Emilie and Verdez, Simon and Paccaud, Julien and Bruel, Ange-Line and Tran Mau-Them, Fr{\'e}d{\'e}ric and Denomm{\'e}-Pichon, Anne-Sophie and Thevenon, Julien and Safraou, Hana and Besnard, Thomas and Goldenberg, Alice and Cogn{\'e},
Benjamin and Isidor, Bertrand and Delanne, Julian and Sorlin, Arthur and Moutton, S{\'e}bastien and Fradin, M{\'e}lanie and Dubourg, Christ{\`e}le and Gorce, Magali and Bonneau, Dominique and El Chehadeh, Salima and Debray, Fran{\c c}ois-Guillaume and Doco-Fenzy, Martine and Uguen, Kevin and Chatron, Nicolas and Aral, Bernard and Marle, Nathalie and Kuentz, Paul and Boland, Anne and Olaso, Robert and Deleuze, Jean-Fran{\c c}ois and Sanlaville, Damien and Callier, Patrick and Philippe, Christophe and Thauvin-Robinet, Christel and Faivre, Laurence and Vitobello, Antonio},
URL = {https://univ-rennes.hal.science/hal-04067649},
JOURNAL = {Frontiers in Cell and Developmental Biology},
PUBLISHER = {Frontiers media},
VOLUME = {11},
PAGES = {1021920},
YEAR = {2023},
MONTH = Feb, DOI = {10.3389/fcell.2023.1021920},
KEYWORDS = {RNA-seq ; clinical diagnoses ; genome sequencing ; long-read sequencing ; optical genome mapping},
PDF = {https://univ-rennes.hal.science/hal-04067649/file/pdf},
HAL_ID = {hal-04067649},
HAL_VERSION = {v1},
}