Section: Genomics and Genetics in Rare Disease Research (OPTIONAL MODULE) | Rare Disease Scholars 2017-2018 | LearnRD.com

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Section outline

THIS IS AN OPTIONAL SESSION FOR PARTICIPANTS ALREADY SAVY WITH GENOMICS OR GENETIC EVALUATIONS.
Take a quick over view of what next generation sequencing is, how it can be used, its limitations, and its benefits to patients and families with rare disorders.
- Select activity Deb Regier's Quick Guide to "does this change mean anything"
  
  Deb Regier's Quick Guide to "does this change mean anything" File DOCX
  
  7.3 MB · Uploaded 10/1/17, 20:40
- Select activity PDF of ACMG Standards and guidelines for the interpretation of sequence variants:
  
  PDF of ACMG Standards and guidelines for the interpretation of sequence variants: File PDF
  
  437.4 KB · Uploaded 10/1/17, 20:40
- Select activity ACMG Incidental Finding Guidelines PDF
  
  ACMG Incidental Finding Guidelines PDF File PDF
  
  425.9 KB · Uploaded 10/1/17, 20:40
- Select activity Next Gen Animations
  
  Next Gen Animations URL
- Select activity Next Gen Animation
  
  Next Gen Animation URL
- Select activity DR's Genomic Tools Overview
  
  DR's Genomic Tools Overview File PPTX
  
  9.5 MB · Uploaded 10/1/17, 20:40
- Select activity Genomics Overview with Deb
  
  Genomics Overview with Deb URL