Fig. 1
From: Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report
Identification of two pathogenic variants in CFTR. Next-generation DNA sequencing reads of the CFTR gene from the patient aligned to the reference sequence are visualized in the Integrative Genomics Viewer. Pink colored reads aligned to forward, and blue colored reads aligned to reverse DNA strands. a A pathogenic 3 base pair deletion is shown for the variant c.1521_1523delCTT. b A pathogenic single nucleotide variant c.870-1G > C is shown by the blue Cs.