Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics

Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics

Ambry Genetics via YouTube Direct link

Intro

1 of 20

1 of 20

Intro

Class Central Classrooms beta

YouTube videos curated by Class Central.

Classroom Contents

Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics

Automatically move to the next video in the Classroom when playback concludes

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

Never Stop Learning.

Get personalized course recommendations, track subjects and courses with reminders, and more.

Someone learning on their laptop while sitting on the floor.