Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

• DOI: 10.1126/sciadv.aay8299
• Publication Date: 2020-06-10T23:12:35Z
• Authors: David Zhang; Sebastian Guelfi; Sonia Garcia-Ruiz; Beatrice Costa; Regina H. Reynolds; Karishma D’Sa; Wenfei Liu; Thomas Courtin; Amy Peterson; Andrew E. Jaffe; John Hardy; Juan A. Botía; Leonardo Collado-...; Mina Ryten
• Keywords: 0301 basic medicine; 03 medical and health sciences; Sequence Analysis, RNA; [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]; [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology; Databases, Genetic; Humans; Molecular Sequence Annotation; Exons; Transcriptome; Research Articles; 3. Good health

Incomplete annotation has the greatest impact on brain-specific genes and consequently, brain-related disorders.