Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using svafotate

HIGHLIGHTS

  • who: Thomas J. Nicholas from the Department of Human, University of Utah, Salt Lake City, UT, USA have published the article: Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate, in the Journal: (JOURNAL)
  • what: The authors demonstrate the use of SVAFotate in the classification of SVs with regards to their population frequency and illustrate how SVAFotate`s annotations can be used to filter and prioritize SVs. The authors provide recommendations for applying SVAFotate in rare disease studies. This analysis demonstrates how SVAFotate may assist in identifying rare . . .

     

    Logo ScioWire Beta black

    If you want to have access to all the content you need to log in!

    Thanks :)

    If you don't have an account, you can create one here.

     

Scroll to Top

Add A Knowledge Base Question !

+ = Verify Human or Spambot ?