Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

por Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E., Topper, Scott E.
Publicado 2017

A dynamic model of proteome changes reveals new roles for transcript alteration in yeast

por Lee, M Violet, Topper, Scott E, Hubler, Shane L, Hose, James, Wenger, Craig D, Coon, Joshua J, Gasch, Audrey P
Publicado 2011

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

por Venner, Eric, Muzny, Donna, Smith, Joshua D., Walker, Kimberly, Neben, Cynthia L., Lockwood, Christina M., Empey, Phillip E., Metcalf, Ginger A., Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L., Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A., Nickerson, Deborah, Zhou, Alicia Y., Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E., Lennon, Niall J.
Publicado 2022