no code implementations • 29 Sep 2023 • Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A Haendel, Peter N Robinson, Christopher J Mungall, Justin T Reese
Objective: Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.