作者
Stephen B Montgomery, Micha Sammeth, Maria Gutierrez-Arcelus, Radoslaw P Lach, Catherine Ingle, James Nisbett, Roderic Guigo, Emmanouil T Dermitzakis
发表日期
2010/4/1
期刊
Nature
卷号
464
期号
7289
页码范围
773-777
出版商
Nature Publishing Group UK
简介
Gene expression is an important phenotype that informs about genetic and environmental effects on cellular state. Many studies have previously identified genetic variants for gene expression phenotypes using custom and commercially available microarrays,,,,. Second generation sequencing technologies are now providing unprecedented access to the fine structure of the transcriptome,,,,,,,,. We have sequenced the mRNA fraction of the transcriptome in 60 extended HapMap individuals of European descent and have combined these data with genetic variants from the HapMap3 project. We have quantified exon abundance based on read depth and have also developed methods to quantify whole transcript abundance. We have found that approximately 10 million reads of sequencing can provide access to the same dynamic range as arrays with better quantification of alternative and highly abundant transcripts …
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