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Advanced filters: Author: "Stephen Montgomery" Clear advanced filters

  • The authors describe how the evolving designs of eQTL studies, facilitated by advances in genotyping and gene-expression-based technologies, are increasingly able to investigate the role of regulatory variation in different biological contexts.

    • Stephen B. Montgomery
    • Emmanouil T. Dermitzakis
    Reviews
    Nature Reviews Genetics
    Volume: 12, P: 277-282

  • Here, sequencing has been used to characterize the mRNA fraction of the transcriptome in Caucasian individuals, to provide a fine-scale view of transcriptomes and to identify genetic variants that affect alternative splicing. Measuring allele-specific expression identified rare expression quantitative trait loci (eQTLs) and allelic differences in transcript structure, revealing new properties of genetic effects on the transcriptome.

    • Stephen B. Montgomery
    • Micha Sammeth
    • Emmanouil T. Dermitzakis
    Research
    Nature
    Volume: 464, P: 773-777