GREGoR: Accelerating Genomics for Rare Diseases

Authors: Dawood, Moez, Heavner, Ben, Wheeler, Marsha M., Ungar, Rachel A., LoTempio, Jonathan, Wiel, Laurens, Berger, Seth, Bernstein, Jonathan A., Chong, Jessica X., Délot, Emmanuèle C., Eichler, Evan E., Gibbs, Richard A., Lupski, James R., Shojaie, Ali, Talkowski, Michael E., Wagner, Alex H., Wei, Chia-Lin, Wellington, Christopher, Wheeler, Matthew T., Members, GREGoR Partner, Carvalho, Claudia M. B., Gifford, Casey A., May, Susanne, Miller, Danny E., Rehm, Heidi L., Sedlazeck, Fritz J., Vilain, Eric, O'Donnell-Luria, Anne, Posey, Jennifer E., Chadwick, Lisa H., Bamshad, Michael J., Montgomery, Stephen B., Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium

Subject Terms: Quantitative Biology - Other Quantitative Biology

Access URL: http://arxiv.org/abs/2412.14338

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

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.

Subject Terms: Quantitative Biology - Genomics

Access URL: http://arxiv.org/abs/2301.07363