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

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.