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Classroom Contents
Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics
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- 1 Intro
- 2 Outline
- 3 What to target?
- 4 Panel design
- 5 Panels vs. Exome
- 6 What do we mean by "coverage"?
- 7 Average vs. Percent Covered on NGS
- 8 What is an appropriate depth?
- 9 What's happening in regions with low depth?
- 10 Variant Detection using NGS • Allelic depth can be used to summarize the information supporting a call
- 11 Calling heterozygotes and identifying mosaicism
- 12 Uniformity and Quality
- 13 What is a Phred-scaled quality score?
- 14 Notes on confirmatory testing
- 15 Identifying copy number variants
- 16 Requests for raw data
- 17 Review: aligning to a genome
- 18 Review: statistics in variant calling
- 19 What type of file is required?
- 20 Summary
