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Volumn 58, Issue 11, 2012, Pages 1507-1509
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Exome and whole-genome sequencing as clinical tests: A transformative practice in molecular diagnostics
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Author keywords
[No Author keywords available]
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Indexed keywords
5' UNTRANSLATED REGION;
COPY NUMBER VARIATION;
EXOME;
EXON;
GENE DELETION;
GENE INSERTION;
GENE SEQUENCE;
GENETIC SCREENING;
GENETIC VARIABILITY;
GENOME;
HUMAN;
INTERMETHOD COMPARISON;
MOLECULAR DIAGNOSIS;
RELIABILITY;
REVIEW;
SENSITIVITY AND SPECIFICITY;
SINGLE NUCLEOTIDE POLYMORPHISM;
VALIDATION PROCESS;
WHOLE EXOME SEQUENCING;
WHOLE GENOME SEQUENCING;
DISEASE;
EXOME;
GENETIC VARIATION;
GENOME, HUMAN;
HUMANS;
MOLECULAR DIAGNOSTIC TECHNIQUES;
REAGENT KITS, DIAGNOSTIC;
SEQUENCE ANALYSIS, DNA;
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EID: 84868118711
PISSN: 00099147
EISSN: 15308561
Source Type: Journal
DOI: 10.1373/clinchem.2012.193128 Document Type: Review |
Times cited : (25)
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References (5)
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