VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders

Brian G Weinshenker , Steve Sommer
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引用次数: 2

Abstract

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.

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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
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。
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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
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