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 2 WES quality summary for the raw data.

Sample	Raw data		Valid data		Raw depth (x)	Valid %	Q20 %	Q30 %	GC %
Sample	Read	Base	Read	Base	Raw depth (x)	Valid %	Q20 %	Q30 %	GC %
Cleft_1	84000000	12.60G	82475296	12.37G	217.24	98.18	98.24	95.11	53.52
Cleft_2	84000000	12.60G	82560022	12.38G	217.24	98.29	98.31	95.39	53.52
Cleft_3	84000000	12.60G	82419604	12.36G	217.24	98.1	98.40	95.62	53.36
Normal_4	84000000	12.60G	82266828	12.34G	217.24	97.94	98.35	95.54	53.19
Normal_5	84000000	12.60G	82695176	12.40G	217.24	98.45	98.45	95.69	53.63
WES – whole-exome 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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