@article{bourchany:hal-01626052, TITLE = {{Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses}}, AUTHOR = {Bourchany, Aur{\'e}lie and Thauvin-Robinet, Christel and Lehalle, Daphne and Bruel, Ange-Line and Masurel-Paulet, Paul and Jean, Nolwenn and Nambot, Sophie and Willems, Marjorie and Lambert, Laetitia and El Chehadeh-Djebbar, Salima and Schaefer, Elise and Jaquette, Aur{\'e}lia and St-Onge, Judith and Poe, Charlotte and Jouan, Thibaud and Chevarin, Martin and Callier, Patrick and Mosca-Boidron, Anne-Laure and Laurent, Nicole and Lefebvre, Mathilde and Huet, Fr{\'e}d{\'e}ric and Houcinat, Nada and Moutton, S{\'e}bastien and Philippe, Christophe and Tran-Mau-Them, Fr{\'e}d{\'e}ric and Vitobello, Antonio and Kuentz, Paul and Duffourd, Yannis and Rivi{\`e}re, Jean-Baptiste and Thevenon, Julien and Faivre, Laurence}, URL = {https://u-bourgogne.hal.science/hal-01626052}, NOTE = {IF 2.137}, JOURNAL = {{European Journal of Medical Genetics}}, PUBLISHER = {{Elsevier}}, VOLUME = {60}, NUMBER = {11}, PAGES = {595 - 604}, YEAR = {2017}, MONTH = Nov, DOI = {10.1016/j.ejmg.2017.08.011}, KEYWORDS = {Diagnostic turnaround time ; Exome sequencing ; Undiagnosed genetic conditions}, HAL_ID = {hal-01626052}, HAL_VERSION = {v1}, }