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Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation
J Ghouse, M W Skov, R S Bigseth, G Ahlberg,
J K Kanters
, M S Olesen
Physiology of circulation, kidney and lung
10
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Keyphrases
Genome Interpretation
100%
Large Genome
100%
Genome Database
100%
Pathogenic mutations
100%
Cardiology
100%
Publicly Available
50%
Genetic Research
25%
Data Sharing
25%
Clinical Impact
25%
Medical Decision
25%
Gene-specific
25%
Collaborative Efforts
25%
Genetic mutation
25%
Geneticists
25%
Uncertain Results
25%
Rare Genetic Variation
25%
Variant Classification
25%
Disease Genes
25%
Computational Analysis
25%
Exome
25%
Human Genome
25%
Genomic Medicine
25%
Pathogenicity
25%
Clinical Laboratory
25%
Clinical Genetic Testing
25%
Biochemistry, Genetics and Molecular Biology
Genetic Background
100%
Genetics
100%
Human Genome
33%
Genetic Divergence
33%
Exome
33%
Genetic Screening
33%
Genomics
33%
Genetic Variation
33%
Gene Mutation
33%