Essays about: "OPA3"

Found 1 essay containing the word OPA3.

  1. 1. Detection of aberrant events in RNA for clinical diagnostics

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Mei Wu; [2021]
    Keywords : rare; disease; clinical; bioinformatics; pipeline; analysis; variants; IDS; OPA3; wgs; transcriptome; rna; diagnosis;

    Abstract : Rare diseases are estimated to affect 3.75% of the global population, which roughly translates to 300 million affected individuals. READ MORE