ChinaMAP：华大智造平台助力上海交大瑞金医院发布中国人群G6PD缺乏变异的多组学分析成果

[2]Ainoon, O., Alawiyah, A., Yu, Y.H., Cheong, S.K., Hamidah, N.H., Boo, N.Y.,Zaleha, M., 2003. Semiquantitative screening test for g6pd deficiency detects severe deficiency but misses asubstantial proportion of partially-deficient females. Southeast Asian J. Trop. Med. Public Health 34, 405-414.

[3]Li, Z., Huang, Z., Liu, Y., Cao, Y., Li, Y., Fang, Y., Huang, M., Liu, Z., Lin, L.,Jiang, L., 2023. Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD)

deficiency in guangzhou, china. Hum. Genomics 17, 26.

[4] Cao, Y., Li, L., Xu, M., Feng, Z., Sun, X., Lu, J., Xu, Y., Du, P., Wang, T., Hu, R., et al., 2020.The chinamap analytics of deep whole genome sequences in 10,588 individuals. Cell Res. 30,717-731.

[5]Liu, Z., Yu, C., Li, Q., Cai, R., Qu, Y., Wang, W., Wang, J., Feng, J., Zhu, W., Ou, M., et al., 2020. Chinese newborn screening for the incidence of g6pd deficiency and variant of g6pd gene from 2013 to 2017. Hum. Mutat. 41, 212-221.

[6] Iwai, K., Hirono, A., Matsuoka, H., Kawamoto, F., Horie, T., Lin, K., Tantular, I.S., Dachlan, Y.P., Notopuro, H., Hidayah, N.I., et al., 2001. Distribution of glucose-6-phosphate dehydrogenase mutations in southeast asia. Hum. Genet. 108, 445-449.

[7]He, M., Lin, K., Huang, Y., Zhou, L., Yang, Q., Li, S.,Jiang, W., 2018. Prevalence and molecular study of g6pd deficiency in the dai and jingpo ethnic groups in the dehong prefecture of the yunnan province. Hum. Hered. 83, 55-64.

[8]Shalev, O., Eliakim, R., Lugassy, G.Z.,Menczel, J., 1985. Hypoglycemia-induced hemolysis in glucose-6-phosphate dehydrogenase deficiency. Acta Haematol. 74, 227-229