Biological interpretation of genome-wide association studies using predicted gene functions

Tune H Pers; Juha M Karjalainen; Yingleong Chan; Harm-Jan Westra; Andrew R Wood; Jian Yang; Julian C Lui; Sailaja Vedantam; Stefan Gustafsson; Tonu Esko; Tim Frayling; Elizabeth K Speliotes; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Michael Boehnke; Soumya Raychaudhuri; Rudolf S N Fehrmann; Joel N Hirschhorn; Lude Franke

doi:10.1038/ncomms6890

Biological interpretation of genome-wide association studies using predicted gene functions

Tune H Pers, Juha M Karjalainen, Yingleong Chan, Harm-Jan Westra, Andrew R Wood, Jian Yang, Julian C Lui, Sailaja Vedantam, Stefan Gustafsson, Tonu Esko, Tim Frayling, Elizabeth K Speliotes, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Michael Boehnke, Soumya Raychaudhuri, Rudolf S N Fehrmann, Joel N Hirschhorn, Lude Franke

Twin Research & Genetic Epidemiology

Research output: Contribution to journal › Article › peer-review

543 Citations (Scopus)

Abstract

The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.

Original language	English
Article number	5890
Number of pages	9
Journal	Nature Communications
Volume	6
DOIs	https://doi.org/10.1038/ncomms6890
Publication status	Published - 19 Jan 2015

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Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., Frayling, T., Speliotes, E. K., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Boehnke, M., Raychaudhuri, S., Fehrmann, R. S. N., Hirschhorn, J. N., & Franke, L. (2015). Biological interpretation of genome-wide association studies using predicted gene functions. Nature Communications, 6, Article 5890. https://doi.org/10.1038/ncomms6890

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title = "Biological interpretation of genome-wide association studies using predicted gene functions",

abstract = "The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.",

author = "Pers, {Tune H} and Karjalainen, {Juha M} and Yingleong Chan and Harm-Jan Westra and Wood, {Andrew R} and Jian Yang and Lui, {Julian C} and Sailaja Vedantam and Stefan Gustafsson and Tonu Esko and Tim Frayling and Speliotes, {Elizabeth K} and {Genetic Investigation of ANthropometric Traits (GIANT) Consortium} and Cristina Menni and Michael Boehnke and Soumya Raychaudhuri and Fehrmann, {Rudolf S N} and Hirschhorn, {Joel N} and Lude Franke",

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month = jan,

day = "19",

doi = "10.1038/ncomms6890",

language = "English",

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journal = "Nature Communications",

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Pers, TH, Karjalainen, JM, Chan, Y, Westra, H-J, Wood, AR, Yang, J, Lui, JC, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, EK, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Boehnke, M, Raychaudhuri, S, Fehrmann, RSN, Hirschhorn, JN & Franke, L 2015, 'Biological interpretation of genome-wide association studies using predicted gene functions', Nature Communications, vol. 6, 5890. https://doi.org/10.1038/ncomms6890

TY - JOUR

T1 - Biological interpretation of genome-wide association studies using predicted gene functions

AU - Pers, Tune H

AU - Karjalainen, Juha M

AU - Chan, Yingleong

AU - Westra, Harm-Jan

AU - Wood, Andrew R

AU - Yang, Jian

AU - Lui, Julian C

AU - Vedantam, Sailaja

AU - Gustafsson, Stefan

AU - Esko, Tonu

AU - Frayling, Tim

AU - Speliotes, Elizabeth K

AU - Genetic Investigation of ANthropometric Traits (GIANT) Consortium

AU - Menni, Cristina

AU - Boehnke, Michael

AU - Raychaudhuri, Soumya

AU - Fehrmann, Rudolf S N

AU - Hirschhorn, Joel N

AU - Franke, Lude

PY - 2015/1/19

Y1 - 2015/1/19

N2 - The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.

AB - The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.

U2 - 10.1038/ncomms6890

DO - 10.1038/ncomms6890

M3 - Article

C2 - 25597830

SN - 2041-1723

VL - 6

JO - Nature Communications

JF - Nature Communications

M1 - 5890

ER -

Biological interpretation of genome-wide association studies using predicted gene functions

Abstract

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