Seminario ACCDiS en Bioinformática y Biología Computacional: HIGH PRECISION ON VARSTATION: A BIOINFORMATICS PLATFORM IN A CLINICAL CONTEXT
No Comments
Advanced Center for Chronic Disease ACCDiS He is pleased to invite the fourth Seminario en Bioinformática y Biología Computacional
HIGH PRECISION ON VARSTATION: A BIOINFORMATICS PLATFORM IN A CLINICAL CONTEXT
BELISA Q. C. GODOY
HEITOR M. SANTOS
Hospital Israelita Albert Einstein Varstation Sao Paulo, Brasil
13 DE JUNIO, 2018 • 11hrs
Salon Mario Caiozzi Faculty of Chemical and Pharmaceutical Sciences • University of Chile
Sergio Livingstone 1007 Independencia • Santiago
Abstract:
Guests from Hospital Israelita Albert Einstein’s Innovation Lab (São Paulo, Brazil) present Varstation (https://www.varstation.com/), a customized NGS (Next Generarion Sequencing) processing and analysis platform. The lecture will briefly address the context of the tool’s creation and explain how it works, including the entire workflow for genetic sequencing raw files (.FASTQ, .BAM, .VCF) and variant analysis based on standardized annotation and automatic classification (ACMG guidelines). Specific features will also be presented, such as a Machine Learning engine to select relevant sections from scientific articles, CAP Compliance for variant analysis, prediction algorithms.
