Genomic medicine最新文献

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Genes, chromosomes and disease. 基因,染色体和疾病。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9095-4
{"title":"Genes, chromosomes and disease.","authors":"","doi":"10.1007/s11568-009-9095-4","DOIUrl":"https://doi.org/10.1007/s11568-009-9095-4","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9095-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28254182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HGM2008 cancer and epigenomics symposium abstracts. HGM2008癌症与表观基因组学研讨会摘要。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9083-8
{"title":"HGM2008 cancer and epigenomics symposium abstracts.","authors":"","doi":"10.1007/s11568-009-9083-8","DOIUrl":"https://doi.org/10.1007/s11568-009-9083-8","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9083-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28176084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HGM2008 plenary abstracts: genome functions and systems biology. HGM2008全体会议摘要:基因组功能和系统生物学。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9119-0
{"title":"HGM2008 plenary abstracts: genome functions and systems biology.","authors":"","doi":"10.1007/s11568-009-9119-0","DOIUrl":"https://doi.org/10.1007/s11568-009-9119-0","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9119-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HGM 2008 regulatory variation and non-coding DNA sequences symposium abstracts. HGM 2008调控变异和非编码DNA序列研讨会摘要。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9117-2
{"title":"HGM 2008 regulatory variation and non-coding DNA sequences symposium abstracts.","authors":"","doi":"10.1007/s11568-009-9117-2","DOIUrl":"https://doi.org/10.1007/s11568-009-9117-2","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9117-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Technology developments and applications. 技术发展和应用。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9114-5
{"title":"Technology developments and applications.","authors":"","doi":"10.1007/s11568-009-9114-5","DOIUrl":"https://doi.org/10.1007/s11568-009-9114-5","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9114-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bioinformatics and statistical genomics. 生物信息学和统计基因组学。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9081-x
{"title":"Bioinformatics and statistical genomics.","authors":"","doi":"10.1007/s11568-009-9081-x","DOIUrl":"https://doi.org/10.1007/s11568-009-9081-x","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9081-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28214655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Genomics of complex disorders I. 复杂疾病基因组学1。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9105-6
{"title":"Genomics of complex disorders I.","authors":"","doi":"10.1007/s11568-009-9105-6","DOIUrl":"https://doi.org/10.1007/s11568-009-9105-6","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9105-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28188218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs). 与先天性长 QT 综合征 (LQTS) 相关的功能性和单体型标记 SNPs 的硅学研究。
Genomic medicine Pub Date : 2008-12-01 Epub Date: 2009-02-12 DOI: 10.1007/s11568-009-9027-3
C Sudandiradoss, Rao Sethumadhavan
{"title":"In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).","authors":"C Sudandiradoss, Rao Sethumadhavan","doi":"10.1007/s11568-009-9027-3","DOIUrl":"10.1007/s11568-009-9027-3","url":null,"abstract":"<p><p>Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. It is still a major challenge to identify the functional SNPs in disease-related genes. In this review, the genetic variation that can alter the expression and the function of the genes, namely KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2, with the potential role for the development of congenital long QT syndrome (LQTS) was analyzed. Of the total of 3,309 SNPs in all five genes, 27 non-synonymous SNPs (nsSNPs) in the coding region and 44 SNPs in the 5' and 3' un-translated regions (UTR) were identified as functionally significant. SIFT and PolyPhen programs were used to analyze the nsSNPs and FastSNP; UTR scan programs were used to compute SNPs in the 5' and 3' untranslated regions. Of the five selected genes, KCNQ1 has the highest number of 26 haplotype blocks and 6 tag SNPs with a complete linkage disequilibrium value. The gene SCN5A has ten haplotype blocks and four tag SNPs. Both KCNE1 and KCNE2 genes have only one haplotype block and four tag SNPs. Four haplotype blocks and two tag SNPs were obtained for KCNH2 gene. Also, this review reports the copy number variations (CNVs), expressed sequence tags (ESTs) and genome survey sequences (GSS) of the selected genes. These computational methods are in good agreement with experimental works reported earlier concerning LQTS.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694858/pdf/11568_2009_Article_9027.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27983961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HGM2008 structural proteomics symposium abstracts. HGM2008结构蛋白质组学研讨会摘要。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9113-6
{"title":"HGM2008 structural proteomics symposium abstracts.","authors":"","doi":"10.1007/s11568-009-9113-6","DOIUrl":"https://doi.org/10.1007/s11568-009-9113-6","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9113-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28204996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Single gene disorders. 单基因疾病。
Genomic medicine Pub Date : 2008-12-01 DOI: 10.1007/s11568-009-9118-1
{"title":"Single gene disorders.","authors":"","doi":"10.1007/s11568-009-9118-1","DOIUrl":"https://doi.org/10.1007/s11568-009-9118-1","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-009-9118-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28210927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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