Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Xiaoping Zhong; Xiaosha Han; Qihu Xie; Wanxian Chen; Deyi Geng; Genghong Guo; Xuefen Chen; Wancong Zhang; Jiasheng Chen; Shijie Tang

doi:10.12659/MSM.944294

06 July 2024 : Clinical Research

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Xiaoping Zhong^12ACEG, Xiaosha Han^12BCD, Qihu Xie^12BCD, Wanxian Chen^12BCD, Deyi Geng^12EF, Genghong Guo^12EF, Xuefen Chen^12BCD, Wancong Zhang^12A, Jiasheng Chen^12DE, Shijie Tang^12ACE*

DOI: 10.12659/MSM.944294

Med Sci Monit 2024; 30:e944294

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Table 1 WGS quality summary for the raw data.

Sample name	Raw reads	Raw (G)	DataRaw depth (x)	Effective (%)	Error (%)	Q20 %	Q30 %	GC %
Cleft_1	339126746	101.74	35.15	99.93	0.03	97.53	93.47	41.41
Cleft_2	327225957	98.17	33.92	99.9	0.03	97.53	93.43	41.23
Cleft_3	356214413	106.86	36.92	99.92	0.03	97.73	93.88	41.26
Normal_1	308542082	92.56	31.98	99.91	0.03	97.69	93.82	41.39
Normal_2	361657108	108.5	37.49	99.91	0.03	97.73	93.91	41.27
WGS – whole-genomic sequencing. II3, II4, III2, III3 and III4 represent Cleft_1, Cleft_2, Cleft_3, Normal_1 and Normal_2, respectively.

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Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

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