ClinGen Allele Registry links information about genetic variants

por Pawliczek, Piotr, Patel, Ronak Y., Ashmore, Lillian R., Jackson, Andrew R., Bizon, Chris, Nelson, Tristan, Powell, Bradford, Freimuth, Robert R., Strande, Natasha, Shah, Neethu, Paithankar, Sameer, Wright, Matt W., Dwight, Selina, Zhen, Jimmy, Landrum, Melissa, McGarvey, Peter, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Publicado 2018

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

por Preston, Christine G., Wright, Matt W., Madhavrao, Rao, Harrison, Steven M., Goldstein, Jennifer L., Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E., Tong, Howard, Cheng, Shaung, Iacocca, Michael A., Pineda, Arturo Lopez, Popejoy, Alice B., Dalton, Karen, Zhen, Jimmy, Dwight, Selina S., Babb, Lawrence, DiStefano, Marina, O’Daniel, Julianne M., Lee, Kristy, Riggs, Erin R., Zastrow, Diane B., Mester, Jessica L., Ritter, Deborah I., Patel, Ronak Y., Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S., Rehm, Heidi L., Plon, Sharon E., Cherry, J. Michael, Bustamante, Carlos D., Costa, Helio A.
Publicado 2022

Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy

por Parikh, Victoria N., Ioannidis, Alexander G., Jimenez-Morales, David, Gorzynski, John E., De Jong, Hannah N., Liu, Xiran, Roque, Jonasel, Cepeda-Espinoza, Victoria P., Osoegawa, Kazutoyo, Hughes, Chris, Sutton, Shirley C., Youlton, Nathan, Joshi, Ruchi, Amar, David, Tanigawa, Yosuke, Russo, Douglas, Wong, Justin, Lauzon, Jessie T., Edelson, Jacob, Mas Montserrat, Daniel, Kwon, Yongchan, Rubinacci, Simone, Delaneau, Olivier, Cappello, Lorenzo, Kim, Jaehee, Shoura, Massa J., Raja, Archana N., Watson, Nathaniel, Hammond, Nathan, Spiteri, Elizabeth, Mallempati, Kalyan C., Montero-Martín, Gonzalo, Christle, Jeffrey, Kim, Jennifer, Kirillova, Anna, Seo, Kinya, Huang, Yong, Zhao, Chunli, Moreno-Grau, Sonia, Hershman, Steven G., Dalton, Karen P., Zhen, Jimmy, Kamm, Jack, Bhatt, Karan D., Isakova, Alina, Morri, Maurizio, Ranganath, Thanmayi, Blish, Catherine A., Rogers, Angela J., Nadeau, Kari, Yang, Samuel, Blomkalns, Andra, O’Hara, Ruth, Neff, Norma F., DeBoever, Christopher, Szalma, Sándor, Wheeler, Matthew T., Gates, Christian M., Farh, Kyle, Schroth, Gary P., Febbo, Phil, deSouza, Francis, Cornejo, Omar E., Fernandez-Vina, Marcelo, Kistler, Amy, Palacios, Julia A., Pinsky, Benjamin A., Bustamante, Carlos D., Rivas, Manuel A., Ashley, Euan A.
Publicado 2022