Keyphrases
Population Level
100%
DNA Sequencing
100%
Endocrine Disorders
100%
Genetic Testing
50%
Coding Region
50%
Penetrance
33%
Rare Variation
33%
Variant Pathogenicity
33%
Exome Aggregation Consortium
33%
Disease Penetrance
33%
Cumulative Frequency
16%
Background Population
16%
Gain-of-function mutation
16%
Germ Cells
16%
Pathogenicity
16%
Clinical Decision-making
16%
Clinical Diagnosis
16%
Disease Prevalence
16%
Disease Genes
16%
Tolerability
16%
Evolutionary Conservation
16%
Prediction Tool
16%
Clinical Utility
16%
Gene Variants
16%
Improved Estimation
16%
Monogenic
16%
In Silico
16%
Disease Variants
16%
Population Frequency
16%
Missense
16%
Misclassification
16%
Sequence Data
16%
High Background
16%
NsSNPs
16%
Rare Variants
16%
Gene Level
16%
Expected Rate
16%
Decision Algorithm
16%
Background Rates
16%
Variant Interpretation
16%
Variant Frequency
16%
Variant Effect Prediction
16%
Clinical Specificities
16%
Germline Variants
16%
Biochemistry, Genetics and Molecular Biology
DNA Sequence
100%
Penetrance
100%
Coding Region
75%
Genetic Screening
75%
Germ Cell
50%
Germline
50%
Exome
50%
Single-Nucleotide Polymorphism
25%
Prevalence
25%
Genetic Conservation
25%
Clinical Decision Making
25%
Missense
25%
Rare Variant
25%