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

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.