Genetics in Medicine · 2020 · 17 citations · 9 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsFamily-based Genetic AnalysisGenotype-phenotype Association AnalysisPedigree AnalysisVariant AnalysisVariant ClassificationVariant InterpretationClinical Diagnostic ReasoningClinical Genomic DiagnosticsClinical Variant ClassificationDiagnostic TestingDiagnostic Variant InterpretationGenetic Testing InterpretationGenomic Variant InterpretationTrio Analysis
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Clinical application of whole-exome sequencing across clinical indications
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
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