Exome sequencing for diagnosis of congenital hemolytic anemia.
Lamisse Mansour-HendiliAbdelrazak AissatBouchra BadaouiMehdi SakkaChristine GameiroValérie OrtonneOrianne Wagner-BallonSerge PissardVéronique PicardKhaldoun GhazalMichel BahuauCorinne GuittonZiad MansourMylène DuplanArnaud PetitNathalie Costedoat-ChalumeauMarc MichelPablo BartolucciStéphane MoutereauBenoît FunalotFrédéric GalactérosPublished in: Orphanet journal of rare diseases (2020)
The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and probably has to be democratized notably for complex cases.