Genomicsnpj Genomic MedicinePeer-reviewed
A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark, Zornitza Stark, Lauge Farnaes…·Stephen Francis Kingsmore
This study compares diagnostic sensitivity and clinical utility of WGS, WES, and CMA in children with suspected genetic diseases, finding WGS/WES more effective than CMA.
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