Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing
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Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

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Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

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dc.contributor.author Liu, Ya-Peng es
dc.contributor.author Xu, Li-Fang es
dc.contributor.author Wang, Qi es
dc.contributor.author Zhou, Xiao-Long es
dc.contributor.author Zhou, Ji-Long es
dc.contributor.author Pan, Chen es
dc.contributor.author Zhang, Jin-Peng es
dc.contributor.author Wu, Qin-Rong es
dc.contributor.author Li, Yi-Qun es
dc.contributor.author Xia, Yu-Juan es
dc.contributor.author Peng, Xiu es
dc.contributor.author Zhang, Mei-Rong es
dc.contributor.author Yu, Hong-Min es
dc.contributor.author Xu, Li-Chun es
dc.date.accessioned 2016-01-20T11:01:39Z
dc.date.available 2016-01-20T11:01:39Z
dc.date.issued 2015 es
dc.identifier.uri http://hdl.handle.net/10550/50144
dc.relation http://dialnet.unirioja.es/servlet/citart?info=link&codigo=5277087&orden=0 es
dc.source Liu, Ya-Peng ; Xu, Li-Fang ; Wang, Qi ; Zhou, Xiao-Long ; Zhou, Ji-Long ; Pan, Chen ; Zhang, Jin-Peng ; Wu, Qin-Rong ; Li, Yi-Qun ; Xia, Yu-Juan ; Peng, Xiu ; Zhang, Mei-Rong ; Yu, Hong-Min ; Xu, Li-Chun. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2015, Vol. 20, No. 6: 16- es
dc.subject Odontología es
dc.subject Ciencias de la salud es
dc.title Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing es
dc.type info:eu-repo/semantics/article en
dc.type info:eu-repo/semantics/publishedVersion en
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.description.abstractenglish Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods: Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results: By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions: We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. es

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