Method
I3: A Self-organising Learning Workflow for Intuitive Integrative Interpretation of Complex Genetic Data

https://doi.org/10.1016/j.gpb.2018.10.006Get rights and content
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Abstract

We propose a computational workflow (I3) for intuitive integrative interpretation of complex genetic data mainly building on the self-organising principle. We illustrate the use in interpreting genetics of gene expression and understanding genetic regulators of protein phenotypes, particularly in conjunction with information from human population genetics and/or evolutionary history of human genes. We reveal that loss-of-function intolerant genes tend to be depleted of tissue-sharing genetics of gene expression in brains, and if highly expressed, have broad effects on the protein phenotypes studied. We suggest that this workflow presents a general solution to the challenge of complex genetic data interpretation. I3 is available at http://suprahex.r-forge.r-project.org/I3.html.

Keywords

Self-organising
Human genetics
Interpretation
Evolution
Machine learning

Cited by (0)

Peer review under responsibility of Beijing Institute of Genomics, Chinese Academy of Sciences and Genetics Society of China.

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Equal contribution.

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Current address: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.

a

ORCID: 0000-0001-8450-0392.

b

ORCID: 0000-0003-2944-0539.

c

ORCID: 0000-0001-7198-2134.

d

ORCID: 0000-0003-3961-8572.