IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

Author:

Aitken StuartORCID,Firth Helen V.,Wright Caroline F.,Hurles Matthew E.,FitzPatrick David R.,Semple Colin A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference29 articles.

1. The human phenotype ontology in 2021;Köhler;Nucleic Acids Res.,2021

2. Finding diagnostically useful patterns in quantitative phenotypic data;Aitken;Am. J. Hum. Genet.,2019

3. Diagnostically relevant facial gestalt information from ordinary photos;Ferry;Elife,2014

4. Genomically aided diagnosis of severe developmental disorders;FitzPatrick;Annu. Rev. Genomics Hum. Genet.,2020

5. Encoding clinical data with the human phenotype ontology for computational differential diagnostics;Köhler;Curr. Protoc. Hum. Genet.,2019

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