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[Exploring the association between de novo mutations and non-syndromic cleft lip with or without palate based on whole exome sequencing of case-parent trios].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Jun 2022

Chen X, Wang S Y, Xue E C, Wang X H, Peng H X, Fan M, Wang M Y, Wu Y Q, Qin X Y, Li J, Wu T, Zhu H P, Li J, Zhou Z B, Chen D F, Hu Y H

Abstract excerpt

OBJECTIVE: To explore the association between de novo mutations (DNM) and non-syndromic cleft lip with or without palate (NSCL/P) using case-parent trio design. METHODS: Whole-exome sequencing was conducted for twenty-two NSCL/P trios and Genome Analysis ToolKit (GATK) was used to identify DNM by comparing the alleles of the cases and their parents. Information of predictable functions was annotated to the locus...

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PMID: 35701113
PMCID: PMC9197716

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