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Beyond the exome: what's next in diagnostic testing for Mendelian conditions

Fuente: arXiv

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Bibliographic Details
Main Authors:	Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Format:	Preprint
Published:	2023
Subjects:	Genomics
Online Access:	Acceder al recurso
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Internet

https://arxiv.org/abs/2301.07363