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Fig. 3 Rare variants in BA. (A) CPLANE and non-CPLANE genes with rare variants. (B) Proportions of CPLANE and non-CPLANE genes in Fig 2A, with rare variants which are associated with HPO terms. (C) BA cases with no rare variants (n = 3), single rare variants (light grey) and multiple rare variants (dark grey). (D) Distribution of CPLANE and non-CPLANE genes, and genes in both categories with rare variants among BA cases. (E) Venn diagram shows overlap between CPLANE and non-CPLANE genes with rare and common variants. BA, biliary atresia; CPLANE, ciliogenesis and planar polarity effector; HPO, Human Phenotype Ontology.
Reprinted from Journal of hepatology, 79(6), Glessner, J.T., Ningappa, M.B., Ngo, K.A., Zahid, M., So, J., Higgs, B.W., Sleiman, P.M.A., Narayanan, T., Ranganathan, S., March, M., Prasadan, K., Vaccaro, C., Reyes-Mugica, M., Velazquez, J., Salgado, C.M., Ebrahimkhani, M.R., Schmitt, L., Rajasundaram, D., Paul, M., Pellegrino, R., Gittes, G.K., Li, D., Wang, X., Billings, J., Squires, R., Ashokkumar, C., Sharif, K., Kelly, D., Dhawan, A., Horslen, S., Lo, C.W., Shin, D., Subramaniam, S., Hakonarson, H., Sindhi, R., Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes, 1385-1395, Copyright (2023) with permission from Elsevier. Full text @ J. Hepatol.