Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy

• Variant Classification
  Variant interpretation in HCM.

• 2D Cardiac Image analysis
  Automated pipeline for image segmentation and motion analysis.

• 3D Cardiac Image analysis
  Deep learning cardiac image analysis.

• 3D Mass univariate regression analysis
  3D modelling of genotype-phenotype relationship.

• Statistical analysis
  Code for reproducing the tables and plots.

Citation

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP. Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2023 Dec;16(6):e004200. doi: 10.1161/CIRCGEN.123.004200.