Research Topics
Species | Athma A PaiSummaryAffiliation: University of Chicago Country: USA Publications
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Publications
The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levelsAthma A Pai
Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
PLoS Genet 8:e1003000. 2012..By analyzing our data within the context of known steady-state eQTLs, we estimate that a substantial fraction of eQTLs are associated with inter-individual variation in mRNA decay rates...
A genome-wide study of DNA methylation patterns and gene expression levels in multiple human and chimpanzee tissuesAthma A Pai
Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America
PLoS Genet 7:e1001316. 2011..In particular, we estimate that, in the tissues we studied, inter-species differences in promoter methylation might underlie as much as 12%-18% of differences in gene expression levels between humans and chimpanzees...
Understanding mechanisms underlying human gene expression variation with RNA sequencingJoseph K Pickrell
Department of Human Genetics, The University of Chicago, Chicago 60637, USA
Nature 464:768-72. 2010..Our results illustrate the power of high-throughput sequencing for the joint analysis of variation in transcription, splicing and allele-specific expression across individuals...
Dissecting the regulatory architecture of gene expression QTLsDaniel J Gaffney
Department of Human Genetics, University of Chicago, 920 E58th Street, Chicago, IL 60637, USA
Genome Biol 13:R7. 2012..Using the HapMap lymphoblastoid cell lines, we combine 1000 Genomes genotypes and an extensive catalogue of human functional elements to investigate the biological mechanisms that eQTLs perturb...
DNase I sensitivity QTLs are a major determinant of human expression variationJacob F Degner
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
Nature 482:390-4. 2012..Our observations indicate that dsQTLs are highly abundant in the human genome and are likely to be important contributors to phenotypic variation...
DNA methylation patterns associate with genetic and gene expression variation in HapMap cell linesJordana T Bell
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Genome Biol 12:R10. 2011..Here we measured methylation levels at 22,290 CpG dinucleotides in lymphoblastoid cell lines from 77 HapMap Yoruba individuals, for which genome-wide gene expression and genotype data were also available...
Controls of nucleosome positioning in the human genomeDaniel J Gaffney
Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America
PLoS Genet 8:e1003036. 2012....
The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genesDarren A Cusanovich
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 21:2111-23. 2012..Our results, therefore, establish a new set of asthma susceptibility candidate genes. More generally, our observations support the notion that many loci of small effects influence variation in lymphocyte count and asthma susceptibility...
Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing dataJacob F Degner
Department of Human Genetics, University of Chicago, 920 E 58th St, CLSC 507, Chicago, IL 60637, USA
Bioinformatics 25:3207-12. 2009..Here, we investigate the impact of SNP variation on the reliability of read-mapping in the context of detecting allele-specific expression (ASE)...
Noisy splicing drives mRNA isoform diversity in human cellsJoseph K Pickrell
Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America
PLoS Genet 6:e1001236. 2010..7% and show that introns in highly expressed genes are spliced more accurately, likely due to their shorter length. These results implicate noisy splicing as an important property of genome evolution...
Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility dataRoger Pique-Regi
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
Genome Res 21:447-55. 2011..We anticipate that this approach will be a valuable tool for genome-wide studies of gene regulation in a wide variety of cell types or tissues under diverse conditions...
Deciphering the genetic architecture of variation in the immune response to Mycobacterium tuberculosis infectionLuis B Barreiro
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Proc Natl Acad Sci U S A 109:1204-9. 2012..We thus identified a number of candidate loci, including the MAPK phosphatase DUSP14 in particular, that are promising susceptibility genes to pulmonary TB...
