Sökning: "OPA3"

Hittade 1 uppsats innehållade ordet OPA3.

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

   Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

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

   Sammanfattning : Rare diseases are estimated to affect 3.75% of the global population, which roughly translates to 300 million affected individuals. LÄS MER