基于vapse的分析:一种用于阐明复杂疾病遗传易感性的两阶段候选基因方法

Brian G Weinshenker , Steve Sommer
{"title":"基于vapse的分析:一种用于阐明复杂疾病遗传易感性的两阶段候选基因方法","authors":"Brian G Weinshenker ,&nbsp;Steve Sommer","doi":"10.1016/S1383-5726(00)00008-X","DOIUrl":null,"url":null,"abstract":"<div><p>The extraordinary success of linkage analysis in diseases with Mendelian inheritance<span> has not extended readily to the genetics of common complex diseases. VAPSE-based analysis is a type of candidate gene approach that represents an alternative strategy by which genetic mechanisms can be defined despite the presence of substantial genetic heterogeneity. Recent advances in mutation screening and statistical methodology have enhanced substantially the efficiency and power of this approach. The “bread and butter” of VAPSE-based analysis is genotype-to-phenotype searches in large populations with computerized medical records.</span></p></div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2001-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00008-X","citationCount":"2","resultStr":"{\"title\":\"VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders\",\"authors\":\"Brian G Weinshenker ,&nbsp;Steve Sommer\",\"doi\":\"10.1016/S1383-5726(00)00008-X\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The extraordinary success of linkage analysis in diseases with Mendelian inheritance<span> has not extended readily to the genetics of common complex diseases. VAPSE-based analysis is a type of candidate gene approach that represents an alternative strategy by which genetic mechanisms can be defined despite the presence of substantial genetic heterogeneity. Recent advances in mutation screening and statistical methodology have enhanced substantially the efficiency and power of this approach. The “bread and butter” of VAPSE-based analysis is genotype-to-phenotype searches in large populations with computerized medical records.</span></p></div>\",\"PeriodicalId\":100939,\"journal\":{\"name\":\"Mutation Research/Mutation Research Genomics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2001-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00008-X\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mutation Research/Mutation Research Genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S138357260000008X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mutation Research/Mutation Research Genomics","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S138357260000008X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2

摘要

在孟德尔遗传的疾病中,连锁分析取得了非凡的成功,但它并没有轻易地扩展到常见复杂疾病的遗传学上。基于vapse的分析是一种候选基因方法,它代表了一种替代策略,通过该策略可以定义遗传机制,尽管存在大量遗传异质性。突变筛选和统计方法的最新进展大大提高了这种方法的效率和能力。基于vapse的分析的“面包和黄油”是在具有计算机化医疗记录的大量人群中进行基因型到表型的搜索。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders

The extraordinary success of linkage analysis in diseases with Mendelian inheritance has not extended readily to the genetics of common complex diseases. VAPSE-based analysis is a type of candidate gene approach that represents an alternative strategy by which genetic mechanisms can be defined despite the presence of substantial genetic heterogeneity. Recent advances in mutation screening and statistical methodology have enhanced substantially the efficiency and power of this approach. The “bread and butter” of VAPSE-based analysis is genotype-to-phenotype searches in large populations with computerized medical records.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
VOLUME CONTENTS Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus Mutational analysis within the 3′ region of the PKD1 gene in Japanese families Allelic polymorphisms in the transcriptional regulatory region of human SEL1L CUMULATIVE AUTHOR INDEX FOR MUTNOM 2000
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1