OCT 24, 2024 10:00 AM PDT

Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data

Sponsored by: Roche Sequencing
Speaker

Event Date & Time
Date: October 24, 2024
Time: 10:00am PDT, 1:00pm EDT
Abstract
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific regions and enables higher throughput with greater sensitivity for rare variants. However, while the sample preparation and sequencing workflow takes only a few days, much work remains: (1) the assessment of the quality of the raw sequencing data, (2) the processing and analysis of the data, and (3) conversion of the data into readily understandable formats such as charts, tables, and graphs. This process is accomplished through bioinformatics, using a comprehensive suite of specialized tools.
 
In this presentation, the basic elements of bioinformatics will be reviewed–including specific steps such as trimming, downsampling, and alignment of the reads to the reference genome. The generation of sequencing metrics and the identification of variants will also be discussed, using a pipeline developed at Roche. This pipeline leverages open-source/third-party tools and thus is available to any bioinformatician, enabling them to evaluate the sequencing data from either pre-designed or custom panels from Roche.
 
Key highlights:
  • An overview of bioinformatics and where it fits into NGS workflows–including target enrichment; 
  • A walk-through of the analysis stages of Roche’s bioinformatics container solution for target-enriched NGS samples, using whole-exome sequencing (WES) data from libraries created on a fully automated liquid handler as an example;
  • An introduction to how the Roche Bioinformatics Team works internally to develop new customized pipeline solutions; these can then be shared with labs that use Roche library prep and target enrichment solutions and also have bioinformatics resources.
 
For Research Use Only. Not for use in diagnostic procedures.
 
 
Webinars will be available for unlimited on-demand viewing after live event.
 

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