Rare diseases affect millions of people worldwide, yet many patients never receive a genetic diagnosis. This thesis shows that new DNA sequencing technologies reveal disease-causing mutations more accurately, leading to higher diagnostic success.
Muhammet Erdi Küçük (1991) behaalde zijn master in bio-informatica uit University of British Columbia en deed promotieonderzoek aan de Radboud Universiteit binnen de afdeling Humane Genetica.