Fig. 1

Decision tree of the WES strategy versus the TACScore strategy. In model 1, WES serves as the first-line test. In model 2, the TACScore serves as a screening test and WES is administered when the TACScore indicates a negative outcome. a. CS patients from the DISCO (Decipher of disorder Involving Scoliosis and COmorbidities) cohort. b. The SNVs and CNVs are called from the WES data. The SNVs are verified by Sanger sequencing, and the CNVs are confirmed by ddPCR. c. The true positive of the TACScore is confirmed by the TBX6 monogenic test, which consists of Sanger sequencing of all exons and the approximately 1-kb upstream region of the TBX6 gene, and the ddPCR detection of the 16p11.2 deletions. Abbreviations: WES, whole-exome sequencing; TACScore, TBX6-associated congenital scoliosis risk score; CS, congenital scoliosis; SNV, single-nucleotide variant; CNV, copy number variation; ddPCR, droplet digital polymerase chain reaction