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Continuous, probabilistic variant interpretation with Bayesian graphical models Korn, Wolfgang Michael; Kobayashi, Yuya; Facio, Flavia M.; Nampally, Arun; Nykamp, Keith; Nussbaum, Robert; Colavin, Alexandre; Johnson, Britt; Manders, Toby Share Save
The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions Morales, Ana; Johnson, Britt; Facio, Flavia; Ting, Yi-Lee; Vatta, Matteo; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Fresard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C. H.; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K.; Desnick, Robert J.; Garton, Michael; Roth, Frederick P. Share Save
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS Johnson, Britt; Facio, Flavia; Morales, Ana; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation Truty, Rebecca; Ouyang, Karen; Rojahn, Susan; Garcia, Sarah; Colavin, Alexandre; Hamlington, Barbara; Freivogel, Mary; Nussbaum, Robert L.; Nykamp, Keith; Aradhya, Swaroop Share Save
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Coordination of peptidoglycan synthesis and outer membrane constriction during Escherichia coli cell division Gray, Andrew N.; Egan, Alexander J. F.; van't Veer, Inge L.; Verheul, Jolanda; Colavin, Alexandre; Koumoutsi, Alexandra; Biboy, Jacob; Altelaar, A. F. Maarten; Damen, Mirjam J.; Huang, Kerwyn Casey; Simorre, Jean-Pierre; Breukink, Eefjan; den Blaauwen, Tanneke; Typas, Athanasios; Gross, Carol A.; Vollmer, Waldemar Share Save
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