Systematic errors in annotations of truncations, loss-of-function and synonymous variants

HIGHLIGHTS

  • who: TYPE and colleagues from the University of North Carolina at Chapel Hill, United States have published the research: Systematic errors in annotations of truncations, loss-of-function and synonymous variants, in the Journal: (JOURNAL)

SUMMARY

    Certain variants are not properly characterized, e_g because they are classified as irrelevant or of low significance and relevance in diseases. The annotation of variations is a crucial step in the generation and use of variation data as the annotations are essential, e_g, in the analysis of diseaserelated variants. If a variant causing missing protein (p.0 . . .

     

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