Article

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases

2018-01-30

Abstract excerpt

<h4>IMPORTANCE</h4> Genetic diseases are a leading cause of childhood mortality. Whole genome sequencing (WGS) and whole exome sequencing (WES) are relatively new methods for diagnosing genetic diseases. <h4>OBJECTIVES</h4> Compare the diagnostic sensitivity (rate of causative, pathogenic or likely pathogenic genotypes in known disease genes) and rate of clinical utility (proportion in whom medical or surgical m...

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Literature Corpus work: be662ce5-3111-5ce4-b505-0aa8fa800a42
DOI: 10.1101/255299

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