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Fig. 1 Flow chart of gene burden analysis. Exomes of severe adolescent idiopathic scoliosis (AIS) cases and in-house controls went through data cleaning and anchoring to European population. Rare gene burden analyses were performed between 1221 unrelated severe AIS probands with two independent controls (1397 in-house controls and 56885 gnomAD non-Finnish European (NFE) controls) in the autosomal dominant mode using the Testing Rare vAriants using Public Data (TRAPD) method. PCA, principal component analysis. AC, allele count. EA, European American.
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Full text @ J. Med. Genet.