نتائج البحث - Thomas Defay

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  1. 1

    A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders حسب Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs

    الحاوية / القاعدة HGG Advances (2021-07-01)
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  2. 2

    P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education حسب Brandan Schultz, Rebecca Reimers, Ileana Matta, Liana Protopsaltis, Lauren Olsen, Moran Snir, Laura Hayward, Eric Blincow, Corrine Blucher, Jeanne Carroll, Sara Caylor, Thomas Defay, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Christian Hansen, Chris Kunard, YongHyun Kwon, Jennie Le, Jeremy Leipzig, Jerica Lenberg, Yupu Liang, Shyamal Mehtalia, William Mowrey, Hung Nguyen, Danny Oh, Gunter Scharer, Jennifer Schleit, Emilie Simmons, Laurie Smith, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Meredith Wright, Mark Yandell, Stephen Kingsmore

    الحاوية / القاعدة Genetics in Medicine Open (2025-01-01)
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  3. 3

    P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* حسب Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

    الحاوية / القاعدة Genetics in Medicine Open (2024-01-01)
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