Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Benjamin Büttner, Sonja Martin, Anja Finck, Maria Arélin, Carolin Baade‐Büttner, Tobias Bartolomaeus, Peter O. Bauer, Astrid Bertsche, Matthias Karl Bernhard, Saskia Biskup, Nataliya Di Donato, Magdeldin Elgizouli, Roland Ewald, Constanze Heine, Yorck Hellenbroich, , Rami Abou Jamra
The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.
bioRxiv · Mar 26, 2019 · PreprintGenetics