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

• Grant number: 21/15079-8
• Support Opportunities: Multi-user Equipment Program
• Start date: April 01, 2022
• End date: March 31, 2029
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Berenice Bilharinho de Mendonça
• Host 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
• 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)