EXOME

作品数：37被引量：83H指数：5
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相关领域：医药卫生生物学更多>>
相关作者：王俊岭郑德柱李雪楠兰风华林炎鸿更多>>
相关机构：中南大学北京市计算中心中国农业科学院作物科学研究所基因组研究所更多>>
相关期刊：《National Science Review》《Chinese Journal of Plastic and Reconstructive Surgery》《Asian Journal of Andrology》《Science China(Life Sciences)》更多>>
相关基金：国家自然科学基金国家重点基础研究发展计划国家高技术研究发展计划宁波市自然科学基金更多>>
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Expanding the Russian allele frequency reference via cross-laboratory data integration:insights from 7452 exome samples
《National Science Review》2024年第10期178-187,共10页Yury A.Barbitoff Darya N.Khmelkova Ekaterina A.Pomerantseva Aleksandr V.Slepchenkov Nikita A.Zubashenko Irina V.Mironova Vladimir S.Kaimonov Dmitrii E.Polev Victoria V.Tsay Andrey S.Glotov Mikhail V.Aseev Sergey G.Shcherbak Oleg S.Glotov Arthur A.Isaev Alexander V.Predeus 
supported by the Ministry of Science and Higher Education of Russian Federation(Project‘Multicenter research bioresource collection Human Reproductive Health’contract No.075-15-2021-1058 from 28 September 2021).
Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics.Recently,several large allele frequency databases,such as the Genome Aggregation Database(...
关键词：whole exome sequencing allele frequency medical genetics RUSSIA 
Integration between Genomic and Computational Statistical Surveys for the Screening of SNP Genetic Variants in Inflammatory Bowel Disease (IBD) Pediatric Patients*
《Computational Molecular Bioscience》2024年第3期146-191,共46页Dago Dougba Noel Koffi N’Guessan Bénédicte Sonia Dagnogo Olefongo Daramcoum Wentoin Alimata Marie-Pierre Mauro Giacomelli Dagnogo Dramane Eboulé Ago Eliane Rebecca Yao Saraka Didier Martial Diarrassouba Nafan Giovanni Malerba Raffaele Badolato 
Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the ...
关键词：Inflammatory Bowel Disease (IBD) Crohn Disease (CD) Ulcerative Colitis (UC) Clinical Exome Analysis Computational Statistic SNP Genetic Variants 
Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement
《Journal of Biosciences and Medicines》2024年第6期7-12,共6页Paulo Roberto Matos-Neto Lucas Antonissen Lima Verde Airton Ferreira da Ponte-Filho Luís Eduardo Oliveira Matos Amandha Espavier Trés Paulo Roberto Lacerda Leal Gerardo Cristino-Filho Regina Coeli de Carvalho Porto Carneiro 
Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 g...
关键词：Oxidative Phosphorylation EPILEPSY EXOME Mitochondrial Defect VARS2 
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
《World Journal of Clinical Cases》2024年第3期503-516,共14页Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma Soumaya Mougou-Zerelli Moez Gribaa 
BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the gene...
关键词：Angelman syndrome Ubiquitin-protein ligase E3A EXOME CONSANGUINITY POLYMORPHISM 
Boosting wheat functional genomics via an indexed EMS mutant library of KN9204被引量：1
《Plant Communications》2023年第4期58-76,共19页Dongzhi Wang Yongpeng Li Haojie Wang Yongxin Xu Yiman Yang Yuxin Zhou Zhongxu Chen Yuqing Zhou Lixuan Gui Yi Guo Chunjiang Zhou Wenqiang Tang Shuzhi Zheng Lei Wang Xiulin Guo Yingjun Zhang Fa Cui Xuelei Lin Yuling Jiao Yuehui He Junming Li Fei He Xigang Liu Jun Xiao 
supported by the Strategic Priority Research Program of the Chinese Academy of Sciences(XDA24010204)to J.X.,the Hebei Natural Science Foundation(C2021205013);"Full-time introduction of high-end talent research project"(2020HBQZYC004)to X.-g.L.;the National Natural Science Foundation of China(U22A6009)to J.-m.L.;the Research Program for Network Security and Information of the Chinese Academy of Sciences(CAS-WX2021SF-0109)to F.H.and J.X.;the National Key Research and Developmental Program of China(2021YFD1201500)to J.X.;a China Postdoctoral Science Foundation-funded project(2020M680742)to D.-z.W.
A better understanding of wheat functional genomics can improve targeted breeding for better agronomic traits and environmental adaptation.However,the lack of gene-indexed mutants and the low transformation efficiency...
关键词：WHEAT exome capture sequencing EMS mutagenesis functional genomics 
Exome-wide variation in a diverse barley panel reveals genetic associations with ten agronomic traits in Eastern landraces被引量：1
《Journal of Genetics and Genomics》2023年第4期241-252,共12页June-Sik Kim Kotaro Takahagi Komaki Inoue Minami Shimizu Yukiko Uehara-Yamaguchi Asaka Kanatani Daisuke Saisho Ryuei Nishii Alexander ELipka Takashi Hirayama Kazuhiro Sato Keiichi Mochida 
supported by a Grant-in-Aid for Scientific Research(B)(grant no.15KT0038 to K.M.);a Grant-in-Aid for Scientific Research(C)(grant no.19K11861 to K.M.and R.N.)of the Japan Society for the Promotion of Science;by CREST(grant no.JPMJCR16O4 to K.M.)of the Japan Science and Technology Agency。
Barley(Hordeum vulgare ssp.vulgare)is one of the first crops to be domesticated and is adapted to a wide range of environments.Worldwide barley germplasm collections possess valuable allelic variations that could furt...
关键词：BARLEY Exome-seq Genome-wide association study(GWAS) Population structure Allelic variation 
Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume被引量：1
《Chinese Medical Journal》2023年第7期807-814,共8页Xiang Chen Yuxi Chen Kai Yan Huiyao Chen Qian Qin Lin Yang Bo Liu Guoqiang Cheng Yun Cao Bingbing Wu Xinran Dong Zhongwei Qiao Wenhao Zhou 
grants from the Science and Technology Commission of Shanghai Municipal(No.19411964400);Shanghai Municipal Science and Technology Major Project(No.2018SHZDZX01);ZJLab.
Background:Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay(NDD),but its genetic basis has not been fully characterized.This study attempted to analyze the genetic...
关键词：Brain volume Burden genes CRANIAL EXOME Transcriptome Gestational age Gene frequency PHENOTYPE Magnetic resonance imaging Neuromuscular junction INTERNEURONS 
Exome analysis for Cronkhite-Canada syndrome: A case report被引量：1
《World Journal of Clinical Cases》2022年第24期8634-8640,共7页Zhao-Dong Li Li Rong Yuan-Jing He Yu-Zhu Ji Xiang Li Fang-Zhou Song Xiao-An Li 
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,non-genetic disorder characterized by multiple gastrointestinal polyps,and ectodermal lesions such as alopecia,fingernail atrophy,and skin mucosal pigmentation.Unfort...
关键词：Whole exome sequencing Cronkhite-Canada syndrome Somatic mutations Case report 
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder被引量：4
《Signal Transduction and Targeted Therapy》2021年第3期897-908,共12页Fatao Liu Yongsheng Li Dongjian Ying Shimei Qiu Yong He Maoian Li Yun Liu Yijian Zhang Qin Zhu Yunping Hu Liguo Liu Guoqiang Li Weihua Pan Wei Jin Jiasheng Mu Yang Cao Yingbin Liu 
supported by the National Natural Science Foundation of China(Nos.81902361,31620103910,81874181,91940305,and 81702381);the Shanghai Sailing Program(19YF1433000);the Shanghai Artificial Intelligence Innovation and Development Project(2019-RGZN-01096);the Medical Science and Technology Project of Zhejiang Provincial Health Commission(No.2019334001);the Medical Science and Technology Program of Ningbo(No.2019Y06);the Natural Science Foundation of Ningbo(No.2019A610208);the Shanghai Key Laboratory of Biliary Tract Disease Research Foundation(17DZ2260200);appreciate the support from the Youth Science and Technology Innovation Studio of Shanghai Jiao Tong University School of Medicine(JYKCGZS04).
Neuroendocrine carcinoma(NEC)of the gallbladder(GB-NEC)is a rare but extremely malignant subtype of gallbladder cancer(GBC).The genetic and molecular signatures of GB-NEC are poorly understood;thus,molecular targeting...
关键词：GALLBLADDER CARCINOMAS ORGANS 
Whole-exome mutational landscape of metastasis in patient-derived hepatocellular carcinoma cells被引量：3
《Genes & Diseases》2020年第3期380-391,共12页Qian Zhou Zuli Li Linlan Song Di Mu Jin Wang Li Tian Yong Liao 
This work was supported by the National Natural Science Foundation of China(NSFC,NO.81172066,NO.81472858;NO.91529103);Innovation Team Fund of Second Affiliated Hospital of Chongqing Medical University;The authors would like to thank Dr.Zhou-You Tang,Professor&Director,Liver Cancer Institute,Fudan University,for providing the three HCC cell lines(MHCC97-L,MHCC97-H,HCC97LM3).
In order to explore the genomic basis for liver cancer metastasis,whole-exome sequencing(WES)was performed on patient-derived hepatocellular carcinoma(HCC)cell lines with differential metastatic potentials and analyze...
关键词：Clonal evolution Encyclopedia of genes and genomes(KEGG) Gene ontology(GO) Genome-wide association Hepatocellular carcinoma Metastatic potentiality Somatic gene mutation Whole exome sequencing 
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