Seminario ACCDiS en Bioinformática y Biología Computacional: HIGH PRECISION ON VARSTATION: A BIOINFORMATICS PLATFORM IN A CLINICAL CONTEXT

Centro Avanzado de Enfermedades Crónicas ACCDiS

tiene el agrado de invitar al cuarto 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 

 

Salón Mario Caiozzi Facultad de Ciencias Químicas y Farmacéuticas • Universidad de Chile 

 

Sergio Livingstone 1007 Independencia • Santiago 

 

Abstrac: 

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 and quality control metrics.