Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders
David Zhang, Sebastian Guelfi, Sonia García-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‐Torres, Mina Ryten
Abstract
, for which we experimentally validate a previously unidentified, brain-specific, potentially protein-coding exon. We release all tissue-specific transcriptomes through vizER: http://rytenlab.com/browser/app/vizER We anticipate that this resource will facilitate more accurate genetic analysis, with the greatest impact on our understanding of Mendelian and complex neurogenetic disorders.
Topics & Concepts
Mendelian inheritanceAnnotationGeneticsBiologyComputational biologyComputer scienceBioinformaticsPsychologyGeneGenomics and Rare DiseasesGenetic Associations and EpidemiologyBioinformatics and Genomic Networks