Article
A survey of genetic and epigenetic variation affecting human gene expression.
Physiological genomics - 15 Jan 2004
Pastinen Tomi, Sladek Robert, Gurd Scott, Sammak Alya'a, Ge Bing, Lepage Pierre, Lavergne Karine, Villeneuve Amelie, Gaudin Tiffany, Brändström Helena, Beck Allon, Verner Andrei, Kingsley Jade, Harmsen Eef, Labuda Damian, Morgan Kenneth, Vohl Marie-Claude, Naumova Anna K, Sinnett Daniel, Hudson Thomas J
Abstract excerpt
The identification of human sequence polymorphisms that regulate gene expression is key to understanding human genetic diseases. We report a survey of human genes that demonstrate allelic differences in gene expression, reflecting the presence of putative allele-specific cis-acting factors of either genetic or epigenetic nature. The expression of allelic transcripts in heterozygous samples is assessed directly by...
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