Fig. 2: Analysis strategy for identifying non-canonical variants predicted to alter splicing (NCVAS) in UTHealth, Penn Medicine BioBank, and UK Biobank cohorts. | npj Genomic Medicine

Fig. 2: Analysis strategy for identifying non-canonical variants predicted to alter splicing (NCVAS) in UTHealth, Penn Medicine BioBank, and UK Biobank cohorts.

From: Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Fig. 2

ES exome sequencing; WGS whole genome sequencing; ESTAD sporadic aortic dissection cohort ( < 60 years of age without family history or syndromic features); HTAD Families with multiple members affected by heritable thoracic aortic disease; TAA thoracic aortic aneurysm; HI haploinsufficiency; MAF minor allele frequency; LB/B likely benign or benign; NS not significant (p > 0.05) *number of HTAD pedigrees, 97 total individuals sequenced.

Back to article page