NAGIOS: RODERIC FUNCIONANDO

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

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

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

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.citation	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.identifier.uri	http://hdl.handle.net/10550/50144
dc.description.abstract	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.	en_US
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	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.type.hasVersion	VoR	es_ES
dc.identifier.url	http://dialnet.unirioja.es/servlet/citart?info=link&codigo=5277087&orden=0	es