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 . . .
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