Overview
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Watch a 32-minute webinar exploring bioinformatics workflows for Next-Generation Sequencing (NGS) analysis, featuring Roche Sequencing & Life Science Bioinformatics Scientist Nikita Raymond Dsouza. Gain comprehensive insights into NGS data processing, from quality assessment of raw sequencing data to the generation of interpretable results, with a specific focus on whole-exome sequencing data analysis. Learn about essential bioinformatics elements including trimming, downsampling, and genome alignment, while discovering how Roche's pipeline utilizes open-source tools for variant identification. Explore the integration of target enrichment techniques for enhanced sensitivity in detecting rare variants, and understand how automated library preparation contributes to the workflow. Discover the development process of customized pipeline solutions and their potential application in laboratories using Roche library prep and target enrichment solutions.
Syllabus
Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data
Taught by
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