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Development and implementation of data-mining modules for the identification of pharmacological targets in the Brazilian population genomics platform gen-t.

Grant number: 23/11678-0
Support Opportunities:Research Grants - Innovative Research in Small Business - PIPE
Duration: February 01, 2024 - January 31, 2026
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Kelly Nunes
Grantee:Kelly Nunes
CNAE: Outras atividades de prestação de serviços de informação não especificadas anteriormente
Pesquisa e desenvolvimento experimental em ciências físicas e naturais
Atividades de apoio à gestão de saúde
City: São Paulo
Pesquisadores principais:
Alexandre da Costa Pereira ; Lilian Kimura ; Maira Ribeiro Rodrigues ; Tábita Hünemeier
Associated researchers: João Carlos Pandolfi Santana ; Luiz Fernando Giolo Alves
Associated scholarship(s):24/05436-6 - Development and implementation of genomic analysis pipelines to identify pharmacologically relevant regions through association studies approaches., BP.TT
24/06175-1 - Development and implementation of data-mining modules for the identification of pharmacological targets on the gen-t Platform for genomics of the Brazilian population, BP.PIPE


In recent years there has been a significant growth in the development of technological innovations based on population genomic data, especially in the area of pharma/biotech industries. However, about 80% of the knowledge generated is based only on the genetic diversity of European populations. This lack of diversity in genomic databases leads to the loss of opportunities to make unprecedented findings present in non-European genomes that could lead to innovations in the health area. The gen-t is developing a P&I platform based on the genomic diversity of the Brazilian population to foster innovation in the pharma/biotech industries: the gen-t Platform. Under building since November 2021, the gen-t Platform will gather up to 2024 genomic, health and lifestyle data from 25,000 volunteers from different regions of Brazil, with the goal of reaching 200,000 participants in 2027. In this project, we propose to develop tools for data-mining of the gen-t Platform and use them to identify potential therapeutic targets of interest to the pharmaceutical industry. Our strategy will use approaches based on inbreeding, human knockouts and association studies (GWAS, admixture mapping and fine mapping). To do so, we will start from pre-established methodologies and software to develop and implement our own pipelines for the analysis of genomic data on a large scale. To ensure better analysis performance in a cloud computing environment, traditional pipelines will be rewritten with a workflow management system. With the data-mining module, we will be able to demonstrate the non-European ancestry fractions and inbreeding indices of the gen-t cohort and, therefore, their value against other genomic databases from different countries; and perform the first inbreeding and genomic association analyzes by GWAS and admixture mapping for phenotypes of interest to the pharmaceutical/biotech industry. (AU)

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