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Seminar brings together experts to discuss software related to genetic sequencing


28/06/2024

Luisa Picanço (VPEIC/Fiocruz)

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Professor Peter Freeman from the University of Manchester (UK) will deliver a seminar at the Fiocruz Scientific Computing Program (PROCC) on a software tool called VariantValidator on 2nd July at 10am. The event, titled "VariantValidator: Standardising variant naming in literature to increase diagnostic rates," will be conducted in English with simultaneous translation into Portuguese and Spanish, streamed on the VideoSaude Distribuidora YouTube channel. No prior registration is required to participate.

VariantValidator is a free, open-source tool for validating descriptions of genetic variants and widely used in diagnostic laboratories and research institutions worldwide. Freeman's research focusses on translational bioinformatics in health, aiming tfoo enhance consistency in databases and clinical literature used in genomic diagnostics, particularly in identifying sequence variants. At the University of Manchester, he teaches how bioinformatics can assist in determining pathogenicity of genetic variants.

The seminar is organised by the Vice-Presidency of Education, Information and Communication (VPEIC) of Fiocruz, in collaboration with PROCC and The Global Health Network Latin America and Caribbean (TGHN LAC). Following the seminar, there will be a presentation for PROCC guests at the Centre for International Relations in Health (Cris) at Fiocruz.

Event Details:

PROCC Seminars: VariantValidator - Standardising variant naming in literature to increase diagnostic rates

2nd July 2024, 10am

Hybrid event with live streaming on YouTube

Streaming Links:

Portuguese: https://tinyurl.com/3uyhcj97

English: https://tinyurl.com/mvnubupt

Spanish: https://tinyurl.com/8aetrjdt
 
 

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