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Paper Details

Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Hum Mutat
16
2022
Rare disease, patients, rare disease
Exome, Exome Sequencing, Genomics, Humans, Phenotype, Rare Diseases
Author NameAffiliation
Julius O B JacobsenWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
Catherine KellyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
Valentina CiprianiWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
Genomics England Research Consortium
Christopher J MungallLawrence Berkeley National Laboratory
Christopher J MungallLawrence Berkeley National Laboratory
Justin T ReeseLawrence Berkeley National Laboratory
Daniel Danis
Peter N Robinson
Peter N Robinson
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
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Release 1.2