Scalable detection of technically challenging variants through modified next‐generation sequencing

por Rojahn, Susan, Hambuch, Tina, Adrian, Jessika, Gafni, Erik, Gileta, Alex, Hatchell, Hannah, Johnson, Britt, Kallman, Ben, Karfilis, Kate, Kautzer, Curtis, Kennemer, Michael, Kirk, Lloyd, Kvitek, Daniel, Lettes, Jessica, Macrae, Fenner, Mendez, Fernando, Paul, Joshua, Pellegrino, Maurizio, Preciado, Ronny, Risinger, Jan, Schultz, Matthew, Spurka, Lindsay, Swamy, Sajani, Truty, Rebecca, Usem, Nathan, Velenich, Andrea, Aradhya, Swaroop
Publicado 2022

BAP1 loss defines a new class of renal cell carcinoma

por Peña-Llopis, Samuel, Vega-Rubín-de-Celis, Silvia, Liao, Arnold, Leng, Nan, Pavía-Jiménez, Andrea, Wang, Shanshan, Yamasaki, Toshinari, Zhrebker, Leah, Sivanand, Sharanya, Spence, Patrick, Kinch, Lisa, Hambuch, Tina, Jain, Suneer, Lotan, Yair, Margulis, Vitaly, Sagalowsky, Arthur I., Summerour, Pia Banerji, Kabbani, Wareef, Wong, S. W. Wendy, Grishin, Nick, Laurent, Marc, Xie, Xian-Jin, Haudenschild, Christian D., Ross, Mark T., Bentley, David R., Kapur, Payal, Brugarolas, James
Publicado 2012

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

por Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.
Publicado 2018

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

por Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016