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Multi-user equipment approved in grant 2019/26780-9 - nextseq 2000 sequencer e infinium hd starter kit

Grant number: 21/15079-8
Support type:Multi-user Equipment Program
Duration: April 01, 2022 - March 31, 2029
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Berenice Bilharinho de Mendonça
Grantee:Berenice Bilharinho de Mendonça
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society, AP.TEM
As informações de acesso ao Equipamento Multiusuário são de responsabilidade do Pesquisador responsável
EMU web page: Página do Equipamento Multiusuário não informada
Type of equipment:Caracterização e Análises de Amostras - Proteínas/Ácidos nuclêicos - Sequenciadores
Manufacturer: Fabricante não informado
Model: Modelo não informado

Abstract

Ilumina NextSeq 2000 Sequencing: System is an integrated system for automated generation of DNA donor dusters by bridge amplification, sequencing, primary analysis, and secondary analysis. System induces embedded touchscreen monitor and on instrument computer, control software, hardware accelerated Dragen Bio-ff secondary analysis installation and training, and 12 months warranty (including parts and labor). Differences of sex development (DSD) represent a set of congenital diseases in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging in novel causes of DSD and explaining different phenotypes caused by the same gene mutation. The identification of the molecular causes of DSDs increases the knowledge of gonadal determination mechanisms. In this project, we will use new resources to address the human genome in order to (1) identify new candidate genes as the cause of 46, XY DDS and 46, XX DDS by sequencing the entire exome; (2) to investigate the role of epigenetic mechanisms (methylation and miRNA) in the etiology and phenotype modulation of patients with DSD 46, XX and 46, XY. (AU)

Articles published in Agência FAPESP Newsletter about the research grant:
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