Genomic Technologies and Bioinformatics 101 - Webinar - Ambry Genetics

Explore the fundamentals of next-generation sequencing (NGS) technologies and bioinformatics in this 58-minute webinar presented by Ambry Genetics. Gain a high-level overview of sample preparation for sequencing and learn how bioinformaticians analyze the resulting data to answer important questions. Delve into topics such as historical context, data sources, laboratory analysis, sequencing techniques, quality checks, mapping, variant calling, and annotation. Discover conceptual examples of differential expression and liquid biopsy applications. No prior knowledge of laboratory techniques or bioinformatics is required. Join Dr. Brice Sarver and Brooke Overstreet, MS, CGC, as they guide you through the revolutionary world of genomic technologies, comparing Sanger and capillary sequencing methods, exploring human genome references, and discussing variant calling in interpretation.

Intro
Dr Sarver Introduction
Agenda
Historical Context
Sequence Read Archive
Data Sources
Laboratory Analysis
Sample Preparation
Library Preparation
Sequencing
Ligation
Sequencers
Sequencing Multiple Samples
Fast Queue Format
Quality checks
QC fermentation report
Mapping
IGV
Variant Calling
Annotation
General Conceptual Overview
Differential Expression
Liquid Biopsy
Conclusion
Questions
Sanger vs capillary sequencing
What is used as a human genome
Variant calling in interpretation
Allele dropout