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A bioinformatic tool to reliably estimate expression and map eQTLs of HLA genes in multiple datasets

Grant number: 16/24734-1
Support type:Scholarships abroad - Research Internship - Post-doctor
Effective date (Start): April 20, 2017
Effective date (End): April 19, 2018
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Diogo Meyer
Grantee:Vitor Rezende da Costa Aguiar
Supervisor abroad: Emmanouil Dermitzakis
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Research place: Université de Genève, Switzerland  
Associated to the scholarship:14/12123-2 - Expression and eQTL mapping of HLA genes: analyses based on large-scale RNAseq assays, BP.PD


The HLA genes are the most polymorphic loci of the genome, and also the most associated with disease. This places HLA genes among the most studied genes in the genome. However, their extreme polymorphism imposes challenges to methods of expression quantification, and as a consequence the study of HLA expression and regulation is still in its infancy. In our main project, we have developed a computational pipeline to provide reliable expression estimates for HLA genes using standard RNA-seq data, and applied it to a public dataset of 445 individuals to estimate expression and map the genetic variants that regulate it. Now, a natural extension is (1) to integrate our HLA analysis pipeline as a routine in the program QTLtools, and make it publicly available; (2) use this program to extend our analysis of HLA expression to multiple tissues, made available by the GTEx consortium. In order to achieve these goals, we propose a collaboration with the Dermitzakis group at the University of Geneva, which played a main role in the GTEx consortium and has expertise in the development of bioinformatic tools, including an efficient package for QTL mapping.

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
AGUIAR, VITOR R. C.; CESAR, JONATAS; DELANEAU, OLIVIER; DERMITZAKIS, EMMANOUIL T.; MEYER, DIOGO. Expression estimation and eQTL mapping for HLA genes with a personalized pipeline. PLOS GENETICS, v. 15, n. 4, . (15/19990-6, 13/22007-7, 16/24734-1, 12/18010-0, 14/12123-2)

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