Posts Tagged ‘eqtl’

RNA splicing is a primary link between genetic variation and disease | Science

June 21, 2016

http://science.sciencemag.org/content/352/6285/600.long

Yang I. Li1,
Bryce van de Geijn2,
Anil Raj1,
David A. Knowles3,4,
Allegra A. Petti5,
David Golan1,
Yoav Gilad2,*,
Jonathan K. Pritchard1,6,7,*

RNA splicing is a primary link between genetic variation and disease | Science

June 15, 2016

http://science.sciencemag.org/content/352/6285/600.long

The role of regulatory variation in complex traits and disease : Nature Reviews Genetics : Nature Publishing Group

June 12, 2016

Reg. variation in cplx traits by @LeonidKruglyak
http://www.nature.com/nrg/journal/v16/n4/full/nrg3891.html nice teaching figure for #eQTLs, showing how mostly cis + hotspots http://www.nature.com/nrg/journal/v16/n4/full/nrg3891.html

pQTLs

July 21, 2015

Impact of regulatory variation from RNA to protein
http://www.sciencemag.org/content/347/6222/664.abstract pQTLs for prot levels less related to #eQTLs & rQTLs than expected

How genetics affect phenotypic variation
http://www.sciencemag.org/content/347/6222/664.abstract

Detection and replication of epistasis influencing transcription in humans : Nature : Nature Publishing Group

March 2, 2014

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13005.html

Systematic identification of trans eQTLs as putative drivers of known disease associations

September 15, 2013

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2756.html

“They found SNPs that regulate one gene (Ikaros) in different cell types, meaning they found different cis-regulatory regions for a single gene, that map to different pathways…. they used the cell-type specific information from ENCODE data.”

PLOS Computational Biology: A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

July 27, 2013

http://www.ploscompbiol.org/article/info%253Adoi%252F10.1371%252Fjournal.pcbi.1000770

An Information-Theoretic Machine Learning Approach to Expression QTL Analysis

July 26, 2013

An Information-Theoretic Machine Learning Approach to Expression QTL Analysis Tao Huang, Yu-Dong Cai
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0067899