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Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
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PubMed
subject areas
Clinical Laboratory Techniques
Computational Biology
DNA Copy Number Variations
Gene Dosage
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genome, Human
Genomics
Humans
Molecular Sequence Annotation
Mutation
Phenotype
Rare Diseases
authors with profiles
PAWEL STANKIEWICZ
JAMES LUPSKI
JENNIFER POSEY