A survey of genetic and epigenetic variation affecting human gene expression.

  title={A survey of genetic and epigenetic variation affecting human gene expression.},
  author={Tomi Pastinen and Robert Sladek and Scott Gurd and Alya'a Sammak and Bing Ge and Pierre Lepage and Karine Lavergne and Am{\'e}lie Villeneuve and Tiffany Gaudin and Helena Br{\"a}ndstr{\"o}m and Allon Beck and Andrei Verner and Jade Kingsley and Eef Harmsen and Damian Labuda and Kenneth Morgan and Marie Claude Vohl and Anna K Naumova and Daniel Sinnett and Thomas J. Hudson},
  journal={Physiological genomics},
  volume={16 2},
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 relative quantitation of intragenic marker alleles in messenger or heteronuclear… CONTINUE READING


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