Publications

Our group publishes papers presenting new methodologies, describing the results of studies that use our software, and reviewing current topics in the field of Bioinformatics. Scroll down or click here for a complete list of papers produced by our lab. Since 2013, we write blog posts summarizing new research papers and review articles:

GWAS

Mouse Genetics

Population Structure

Review Articles

Publications

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2018

Gamazon, Eric R; Segrè, Ayellet V; van de Bunt, Martijn; Wen, Xiaoquan; Xi, Hualin S; Hormozdiari, Farhad; Ongen, Halit; Konkashbaev, Anuar; Derks, Eske M; Aguet, François; Quan, Jie; Nicolae, Dan L; Eskin, Eleazar; Kellis, Manolis; Getz, Gad; McCarthy, Mark I; Dermitzakis, Emmanouil T; Cox, Nancy J; Ardlie, Kristin G

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Journal Article

Nat Genet, 50 (7), pp. 956-967, 2018, ISSN: 1546-1718.

Abstract | Links | BibTeX | Tags: Co-Localization, Expression QTLs, Fine Mapping, GWAS+eQTL

Hormozdiari, Farhad; Gazal, Steven; van de Geijn, Bryce; Finucane, Hilary K; Ju, Chelsea J-T; Loh, Po-Ru R; Schoech, Armin; Reshef, Yakir; Liu, Xuanyao; O'Connor, Luke; Gusev, Alexander; Eskin, Eleazar; Price, Alkes L

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. Journal Article

Nat Genet, 50 (7), pp. 1041-1047, 2018, ISSN: 1546-1718.

Abstract | Links | BibTeX | Tags: Fine Mapping, Functional Genomics

2017

Hormozdiari, Farhad; Zhu, Anthony; Kichaev, Gleb; Ju, Chelsea J-T; Segrè, Ayellet V; Joo, Jong Wha J; Won, Hyejung; Sankararaman, Sriram; Pasaniuc, Bogdan; Shifman, Sagiv; Eskin, Eleazar

Widespread Allelic Heterogeneity in Complex Traits. Journal Article

Am J Hum Genet, 100 (5), pp. 789-802, 2017, ISSN: 1537-6605.

Abstract | Links | BibTeX | Tags: Fine Mapping

Lozano, Jose A; Hormozdiari, Farhad; Joo, Jong Wha; Han, Buhm; Eskin, Eleazar

The Multivariate Normal Distribution Framework for Analyzing Association Studies Journal Article

bioRxiv, pp. 208199, 2017.

Abstract | Links | BibTeX | Tags: Fine Mapping, Multi-SNP Association, Multiple Testing

2016

Won, Hyejung; de la Torre-Ubieta, Luis; Stein, Jason L; Parikshak, Neelroop N; Huang, Jerry; Opland, Carli K; Gandal, Michael J; Sutton, Gavin J; Hormozdiari, Farhad; Lu, Daning; Lee, Changhoon; Eskin, Eleazar; Voineagu, Irina; Ernst, Jason; Geschwind, Daniel H

Chromosome conformation elucidates regulatory relationships in developing human brain. Journal Article

Nature, 538 (7626), pp. 523-527, 2016, ISSN: 1476-4687.

Abstract | Links | BibTeX | Tags: Fine Mapping

Hormozdiari, Farhad; van de Bunt, Martijn; Segrè, Ayellet V; Li, Xiao; Joo, Jong Wha J; Bilow, Michael; Sul, Jae Hoon; Sankararaman, Sriram; Pasaniuc, Bogdan; Eskin, Eleazar

Colocalization of GWAS and eQTL Signals Detects Target Genes. Journal Article

Am J Hum Genet, 2016, ISSN: 1537-6605.

Abstract | Links | BibTeX | Tags: Expression QTLs, Fine Mapping

Won, Hyejung ; de la Torre-Ubieta, Luis ; Stein, Jason L; Parikshak, Neelroop N; Huang, Jerry ; Opland, Carli K; Gandal, Michael J; Sutton, Gavin J; Hormozdiari, Farhad ; Lu, Daning ; Lee, Changhoon ; Eskin, Eleazar ; Voineagu, Irina ; Ernst, Jason ; Geschwind, Daniel H

Chromosome conformation elucidates regulatory relationships in developing human brain. Journal Article

Nature, 538 (7626), pp. 523-527, 2016, ISSN: 1476-4687.

Abstract | Links | BibTeX | Tags: Fine Mapping

Won, Hyejung; de la Torre-Ubieta, Luis; Stein, Jason L; Parikshak, Neelroop N; Huang, Jerry; Opland, Carli K; Gandal, Michael J; Sutton, Gavin J; Hormozdiari, Farhad; Lu, Daning; Lee, Changhoon; Eskin, Eleazar; Voineagu, Irina; Ernst, Jason; Geschwind, Daniel H

Chromosome conformation elucidates regulatory relationships in developing human brain. Journal Article

Nature, 538 (7626), pp. 523-527, 2016, ISSN: 1476-4687.

Abstract | Links | BibTeX | Tags: Fine Mapping

Kichaev, Gleb; Roytman, Megan; Johnson, Ruth; Eskin, Eleazar; Lindström, Sara; Kraft, Peter; Pasaniuc, Bogdan

Improved methods for multi-trait fine mapping of pleiotropic risk loci. Journal Article

Bioinformatics, 2016, ISSN: 1367-4811.

Abstract | Links | BibTeX | Tags: Fine Mapping

2015

Hormozdiari, Farhad; Kichaev, Gleb; Yang, Wen-Yun Y; Pasaniuc, Bogdan; Eskin, Eleazar

Identification of causal genes for complex traits. Journal Article

Bioinformatics, 31 (12), pp. i206-i213, 2015, ISSN: 1367-4811.

Abstract | Links | BibTeX | Tags: Fine Mapping

Hormozdiari, Farhad; Kichaev, Gleb; Yang, Wen-Yun Y; Pasaniuc, Bogdan; Eskin, Eleazar

Identification of causal genes for complex traits. Journal Article

Bioinformatics, 31 (12), pp. i206-i213, 2015, ISSN: 1367-4811.

Abstract | Links | BibTeX | Tags: Fine Mapping

2014

Hormozdiari, Farhad; Kostem, Emrah ; Kang, Eun Yong ; Pasaniuc, Bogdan ; Eskin, Eleazar

Identifying causal variants at Loci with multiple signals of association. Journal Article

Genetics, 198 (2), pp. 497-508, 2014, ISSN: 1943-2631.

Abstract | Links | BibTeX | Tags: Fine Mapping

Kichaev, Gleb; Yang, Wen-Yun Y; Lindstrom, Sara ; Hormozdiari, Farhad ; Eskin, Eleazar ; Price, Alkes L; Kraft, Peter ; Pasaniuc, Bogdan

Integrating functional data to prioritize causal variants in statistical fine-mapping studies. Journal Article

PLoS Genet, 10 (10), pp. e1004722, 2014, ISSN: 1553-7404.

Abstract | Links | BibTeX | Tags: Fine Mapping