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1
Intro
2
Dr Sarver Introduction
3
Agenda
4
Historical Context
5
Sequence Read Archive
6
Data Sources
7
Laboratory Analysis
8
Sample Preparation
9
Library Preparation
10
Sequencing
11
Ligation
12
Sequencers
13
Sequencing Multiple Samples
14
Fast Queue Format
15
Quality checks
16
QC fermentation report
17
Mapping
18
IGV
19
Variant Calling
20
Annotation
21
General Conceptual Overview
22
Differential Expression
23
Liquid Biopsy
24
Conclusion
25
Questions
26
Sanger vs capillary sequencing
27
What is used as a human genome
28
Variant calling in interpretation
29
Allele dropout
Description:
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.

Genomic Technologies and Bioinformatics 101 - Webinar - Ambry Genetics

Ambry Genetics
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