The Pathway to Carrier Screening
Researchers Callum Bell, Stephen Kingsmore, and their colleagues combined target enrichment, massively parallel sequencing, and powerful bioinformatics analysis to develop a test that screens for 448 autosomal recessive disorders. This flowchart provides an overview of the steps involved in performing the test.
Legend: Blue boxes–Quality assessment and control; Green boxes–Lab or bioinformatics process; Red box–Report production
Courtesy Darrell Dinwiddie, PhD, Children’s Mercy Hospital, Kansas City, Mo.