Classification of non-coding variants with high pathogenic impact

HIGHLIGHTS

• who: Lambert Moyon and collaborators from the Ecole Normale Supu00e9rieure, PSL Research University, CNRS, Inserm, Institut de Biologie de l`Ecole Normale Supu00e9rieure (IBENS), Paris, France have published the research: Classification of non-coding variants with high pathogenic impact, in the Journal: (JOURNAL) of April/29,/2022
• what: Using a realistic setup that replicates real patient WGS in a broad range of diseases, the authors demonstrate that FINSURF is able to pick out the correct damaging regulatory mutations from several million variants with high accuracy and precision. The authors focused on the set of 92 . . .
  

   

  

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