Publications

Selected Publications

 

Gamazon ER*,†, Segrè AV*,†, van de Bunt M*, Wen X, Xi SH, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J, GTEx Consortium, Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Using an atlas of gene regulation across 44 human tissues to illuminate complex disease- and trait-associated variation. Nature Genetics, online publication June 28, 2018. *Co-first authors, listed            alphabetically, Co-corresponding authors.

 

GTEx Consortium*. Genetic effects on gene expression across human tissues. Nature. 2017 Oct 12;550(7675):204-213. *Segrè AV is co-lead analyst.

 

 

Hormozdiari F, van de Bunt M, Segrè AV, Li X, Joo JWJ, Bilow M, Sul JH, Sankararaman S, Pasaniuc B, Eskin E. Colocalization of GWAS and eQTL Signals Detects Target Genes. Am J Hum Genet. 2016 Dec 1;99(6):1245-1260.

 

GTEx Consortium*. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015 May 8;348(6235):648-60. *Segrè AV is a member of the GTEx Analysis Working Group.

 

Segrè AV, Wei N; DIAGRAM Consortium; MAGIC Investigators, Altshuler D, Florez JC. Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes. 2015 Apr;64(4):1470-83.

Morris AP*, Voight BF*, Teslovich TM*, Ferreira T*, Segrè AV*, [205 authors]; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012 Sep;44(9):981-90. doi: 10.1038/ng.2383. *Co-first author.

Zhu H*, Shyh-Chang N*, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, Urbach A, Thornton JE, Triboulet R, Gregory RI; DIAGRAM Consortium; MAGIC Investigators, Altshuler D, Daley GQ. The Lin28/let-7 axis regulates glucose metabolism. Cell. 2011 Sep 30;147(1):81-94. doi: 10.1016/j.cell.2011.08.033.

Segrè AV; DIAGRAM Consortium; MAGIC investigators, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 2010 Aug 12;6(8). pii: e1001058.

Segrè AV, Murray AW, Leu JY. High-resolution mutation mapping reveals parallel experimental evolution in yeast. PLoS Biol. 2006 Jul;4(8):e256.

 

All Publications