Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell; Darrell L. Dinwiddie; Neil A. Miller; Shannon L. Hateley; Elena E. Ganusova; Joann Mudge; Ray J. Langley; Lu Zhang; Clarence C. Lee; Faye D. Schilkey; Vrunda Sheth; Jimmy E. Woodward; Heather E. Peckham; Gary P. Schroth; Ryan W. Kim; Stephen F. Kingsmore

doi:10.1126/scitranslmed.3001756

Fig. 1

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Workflow of the comprehensive carrier screening test. Workflow shows receiving samples and DNA extraction, target enrichment from DNA samples, multiplexed sequencing library preparation, NGS, and bioinformatic analysis. (The bioinformatic decision tree is shown in fig. S4.)