The potential of polygenic scores to improve cost and efficiency of clinical trials

por Fahed, Akl C., Philippakis, Anthony A., Khera, Amit V.
Publicado 2022

Inferring condition-specific transcription factor function from DNA binding and gene expression data

por McCord, Rachel Patton, Berger, Michael F, Philippakis, Anthony A, Bulyk, Martha L
Publicado 2007

Inferring condition-specific transcription factor function from DNA binding and gene expression data

por McCord, Rachel Patton, Berger, Michael F, Philippakis, Anthony A, Bulyk, Martha L
Publicado 2010

Cross-modal autoencoder framework learns holistic representations of cardiovascular state

por Radhakrishnan, Adityanarayanan, Friedman, Sam F., Khurshid, Shaan, Ng, Kenney, Batra, Puneet, Lubitz, Steven A., Philippakis, Anthony A., Uhler, Caroline
Publicado 2023

Expression-Guided In Silico Evaluation of Candidate Cis Regulatory Codes for Drosophila Muscle Founder Cells

por Philippakis, Anthony A, Busser, Brian W, Gisselbrecht, Stephen S, He, Fangxue Sherry, Estrada, Beatriz, Michelson, Alan M, Bulyk, Martha L
Publicado 2006

Empirical validation of an automated approach to data use oversight

por Cabili, Moran N., Lawson, Jonathan, Saltzman, Andrea, Rushton, Greg, O’Rourke, Pearl, Wilbanks, John, Rodriguez, Laura Lyman, Nyronen, Tommi, Courtot, Mélanie, Donnelly, Stacey, Philippakis, Anthony A.
Publicado 2021

Predicting the binding preference of transcription factors to individual DNA k-mers

por Alleyne, Trevis M., Peña-Castillo, Lourdes, Badis, Gwenael, Talukder, Shaheynoor, Berger, Michael F., Gehrke, Andrew R., Philippakis, Anthony A., Bulyk, Martha L., Morris, Quaid D., Hughes, Timothy R.
Publicado 2009

Deep learning to estimate cardiac magnetic resonance–derived left ventricular mass

por Khurshid, Shaan, Friedman, Samuel Freesun, Pirruccello, James P., Di Achille, Paolo, Diamant, Nathaniel, Anderson, Christopher D., Ellinor, Patrick T., Batra, Puneet, Ho, Jennifer E., Philippakis, Anthony A., Lubitz, Steven A.
Publicado 2021

Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease

por Maamari, Dimitri J., Brockman, Deanna G., Aragam, Krishna, Pelletier, Renée C., Folkerts, Emma, Neben, Cynthia L., Okumura, Sydney, Hull, Leland E., Philippakis, Anthony A., Natarajan, Pradeep, Ellinor, Patrick T., Ng, Kenney, Zhou, Alicia Y., Khera, Amit V., Fahed, Akl C.
Publicado 2022

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis

por Deflaux, Nicole, Selvaraj, Margaret Sunitha, Condon, Henry Robert, Mayo, Kelsey, Haidermota, Sara, Basford, Melissa A., Lunt, Chris, Philippakis, Anthony A., Roden, Dan M., Denny, Joshua C., Musick, Anjene, Collins, Rory, Allen, Naomi, Effingham, Mark, Glazer, David, Natarajan, Pradeep, Bick, Alexander G.
Publicado 2023

Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass

por Khurshid, Shaan, Lazarte, Julieta, Pirruccello, James P., Weng, Lu-Chen, Choi, Seung Hoan, Hall, Amelia W., Wang, Xin, Friedman, Samuel F., Nauffal, Victor, Biddinger, Kiran J., Aragam, Krishna G., Batra, Puneet, Ho, Jennifer E., Philippakis, Anthony A., Ellinor, Patrick T., Lubitz, Steven A.
Publicado 2023

Consent Codes: Upholding Standard Data Use Conditions

por Dyke, Stephanie O. M., Philippakis, Anthony A., Rambla De Argila, Jordi, Paltoo, Dina N., Luetkemeier, Erin S., Knoppers, Bartha M., Brookes, Anthony J., Spalding, J. Dylan, Thompson, Mark, Roos, Marco, Boycott, Kym M., Brudno, Michael, Hurles, Matthew, Rehm, Heidi L., Matern, Andreas, Fiume, Marc, Sherry, Stephen T.
Publicado 2016

Deep learning on resting electrocardiogram to identify impaired heart rate recovery

por Diamant, Nathaniel, Di Achille, Paolo, Weng, Lu-Chen, Lau, Emily S., Khurshid, Shaan, Friedman, Samuel, Reeder, Christopher, Singh, Pulkit, Wang, Xin, Sarma, Gopal, Ghadessi, Mercedeh, Mielke, Johanna, Elci, Eren, Kryukov, Ivan, Eilken, Hanna M., Derix, Andrea, Ellinor, Patrick T., Anderson, Christopher D., Philippakis, Anthony A., Batra, Puneet, Lubitz, Steven A., Ho, Jennifer E.
Publicado 2022

GA4GH Passport standard for digital identity and access permissions

por Voisin, Craig, Linden, Mikael, Dyke, Stephanie O.M., Bowers, Sarion R., Alper, Pinar, Barkley, Maxmillian P., Bernick, David, Chao, Jianpeng, Courtot, Mélanie, Jeanson, Francis, Konopko, Melissa A., Kuba, Martin, Lawson, Jonathan, Leinonen, Jaakko, Li, Stephanie, Ota Wang, Vivian, Philippakis, Anthony A., Reinold, Kathy, Rushton, Gregory A., Spalding, J. Dylan, Törnroos, Juha, Tulchinsky, Ilya, Guidry Auvil, Jaime M., Nyrönen, Tommi H.
Publicado 2021

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

por Schatz, Michael C., Philippakis, Anthony A., Afgan, Enis, Banks, Eric, Carey, Vincent J., Carroll, Robert J., Culotti, Alessandro, Ellrott, Kyle, Goecks, Jeremy, Grossman, Robert L., Hall, Ira M., Hansen, Kasper D., Lawson, Jonathan, Leek, Jeffrey T., Luria, Anne O’Donnell, Mosher, Stephen, Morgan, Martin, Nekrutenko, Anton, O’Connor, Brian D., Osborn, Kevin, Paten, Benedict, Patterson, Candace, Tan, Frederick J., Taylor, Casey Overby, Vessio, Jennifer, Waldron, Levi, Wang, Ting, Wuichet, Kristin
Publicado 2022

Cohort design and natural language processing to reduce bias in electronic health records research

por Khurshid, Shaan, Reeder, Christopher, Harrington, Lia X., Singh, Pulkit, Sarma, Gopal, Friedman, Samuel F., Di Achille, Paolo, Diamant, Nathaniel, Cunningham, Jonathan W., Turner, Ashby C., Lau, Emily S., Haimovich, Julian S., Al-Alusi, Mostafa A., Wang, Xin, Klarqvist, Marcus D. R., Ashburner, Jeffrey M., Diedrich, Christian, Ghadessi, Mercedeh, Mielke, Johanna, Eilken, Hanna M., McElhinney, Alice, Derix, Andrea, Atlas, Steven J., Ellinor, Patrick T., Philippakis, Anthony A., Anderson, Christopher D., Ho, Jennifer E., Batra, Puneet, Lubitz, Steven A.
Publicado 2022

A framework for individualized splice-switching oligonucleotide therapy

por Kim, Jinkuk, Woo, Sijae, de Gusmao, Claudio M., Zhao, Boxun, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A., El Achkar, Christelle Moufawad, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W., Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice, Patterson, Al, Philippakis, Anthony A., Margus, Brad, Berde, Charles B., Yu, Timothy W.
Publicado 2023

Deep learning enables genetic analysis of the human thoracic aorta

por Pirruccello, James P., Chaffin, Mark D., Chou, Elizabeth L., Fleming, Stephen J., Lin, Honghuang, Nekoui, Mahan, Khurshid, Shaan, Friedman, Samuel N., Bick, Alexander G., Arduini, Alessandro, Weng, Lu-Chen, Choi, Seung Hoan, Akkad, Amer-Denis, Batra, Puneet, Tucker, Nathan R., Hall, Amelia W., Roselli, Carolina, Benjamin, Emelia J., Vellarikkal, Shamsudheen K., Gupta, Rajat M., Stegmann, Christian M., Juric, Dejan, Stone, James R., Vasan, Ramachandran S., Ho, Jennifer E., Hoffmann, Udo, Lubitz, Steven A., Philippakis, Anthony A., Lindsay, Mark E., Ellinor, Patrick T.
Publicado 2022

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

por Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns
Publicado 2017

Registered access: authorizing data access

por Dyke, Stephanie O. M., Linden, Mikael, Lappalainen, Ilkka, De Argila, Jordi Rambla, Carey, Knox, Lloyd, David, Spalding, J. Dylan, Cabili, Moran N., Kerry, Giselle, Foreman, Julia, Cutts, Tim, Shabani, Mahsa, Rodriguez, Laura L., Haeussler, Maximilian, Walsh, Brian, Jiang, Xiaoqian, Wang, Shuang, Perrett, Daniel, Boughtwood, Tiffany, Matern, Andreas, Brookes, Anthony J., Cupak, Miro, Fiume, Marc, Pandya, Ravi, Tulchinsky, Ilia, Scollen, Serena, Törnroos, Juha, Das, Samir, Evans, Alan C., Malin, Bradley A., Beck, Stephan, Brenner, Steven E., Nyrönen, Tommi, Blomberg, Niklas, Firth, Helen V., Hurles, Matthew, Philippakis, Anthony A., Rätsch, Gunnar, Brudno, Michael, Boycott, Kym M., Rehm, Heidi L., Baudis, Michael, Sherry, Stephen T., Kato, Kazuto, Knoppers, Bartha M., Baker, Dixie, Flicek, Paul
Publicado 2018