Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders
David Zhang, Sebastian Guelfi, Sonia García-Ruiz, Beatrice Costa, Regina Hertfelder Reynolds, Karishma D’Sa, Wenfei Liu, Thomas Courtin, Amy Peterson, Andrew E. Jaffe, John Hardy, Juan Antonio Botía, Leonardo Collado‐Torres, Mina Ryten
The paper identifies and validates novel transcription regions across tissues, improving gene annotation for 63% of OMIM-morbid genes and highlights tissue-specific and functionally significant variants.
Science Advances · Jun 10, 2020Peer-reviewedBioinformatics