HIGHLIGHTS
- who: Marie A. Brunet from the (UNIVERSITY) have published the article: OpenVar: functional annotation of variants in non-canonical open reading frames, in the Journal: (JOURNAL)
- what: Thousands of ORFs have eluded reference annotations as recently shown by ribosome profiling and proteogenomics studies [6, 10, 21, 22].
- future: Clearly further research is needed to functionally characterize these overlooked ORFs detected by Ribo-seq and/or mass spectrometry.
SUMMARY
Serendipitous discoveries have highlighted likely pathological variants in currently unannotated ORFs. Most studies focused on upstream ORFs, partly because no tool . . .
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