Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

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Science Translational Medicine  24 Apr 2019:
Vol. 11, Issue 489, eaat6177
DOI: 10.1126/scitranslmed.aat6177

A streamlined genetic diagnosis pipeline

When treating seriously ill children, time is of the essence. Clark et al. built an automated pipeline to analyze EHR data and genome sequencing data from dried blood spots to deliver a potential diagnosis for hospitalized, often critically ill, children with suspected genetic diseases. Their pipeline required minimal user intervention, increasing usability and shortening time to diagnosis, delivering a provisional finding in a median time of less than 24 hours. Although this pipeline would need to be adapted for use at different hospital systems, such an automated tool could aid clinicians to expedite an accurate genetic disease diagnosis, potentially hastening lifesaving changes to patient care.

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