Keyphrases
Genome Sequencing
100%
Scotland
93%
Diagnostic Performance
79%
Developmental Disorders
75%
De-novo mutations
75%
Apremilast
75%
T Helper 17 (Th17)
75%
Gene Panel
75%
Publicly Funded Healthcare Systems
75%
Implications for Future
75%
Epidermolysis Bullosa
75%
Economic Evaluation
75%
Whole Genome Sequencing
75%
Inherited Condition
75%
Rare Diseases
75%
Genetic Testing
43%
Genomics England
37%
Variant Prioritization
37%
Exome Sequencing
37%
NHS Scotland
31%
Exome
29%
Scottish
24%
Genomic Medicine
24%
Singleton
24%
Parental Age
21%
Blister Fluid
21%
Inflammation
21%
Epidermis
21%
Trio Exome
18%
Regional Service
18%
Structural Variation
18%
New Diagnosis
18%
Minimal Cost
18%
Genome Analysis
18%
Diagnostic Utility
18%
100,000 Genomes Project
18%
Variant Calling
18%
Edinburgh
18%
Genomic Data
18%
Sequence Data
18%
Genetic Laboratory
18%
Gene-based
18%
Rare Phenotype
18%
Budget Impact
12%
Family Trios
12%
Diagnostic Odyssey
12%
User Value
12%
Valuation Studies
12%
Peace of Mind
12%
Novel Developments
12%
Medicine and Dentistry
Epidermolysis Bullosa Simplex
75%
Apremilast
75%
Disease
21%
Cytokine
21%
Skin Blistering
21%
Blister Fluid
21%
Blister
10%
Prospective Study
10%
Skin Biopsy
10%
Eosinophil
10%
Lymphocyte
10%
Retrospective Study
10%
Neutrophil
10%
Real-Time Polymerase Chain Reaction
10%
Genetic Disorder
10%
T Helper 17 Cell
10%
Immunohistochemistry
10%