Article
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Translational psychiatry - 4 Feb 2020
Forstner Andreas J, Fischer Sascha B, Schenk Lorena M, Strohmaier Jana, Maaser-Hecker Anna, Reinbold Céline S, Sivalingam Sugirthan, Hecker Julian, Streit Fabian, Degenhardt Franziska, Witt Stephanie H, Schumacher Johannes, Thiele Holger, Nürnberg Peter, Guzman-Parra José, Orozco Diaz Guillermo, Auburger Georg, Albus Margot, Borrmann-Hassenbach Margitta, González Maria José, Gil Flores Susana, Cabaleiro Fabeiro Francisco J, Del Río Noriega Francisco, Perez Perez Fermin, Haro González Jesus, Rivas Fabio, Mayoral Fermin, Bauer Michael, Pfennig Andrea, Reif Andreas, Herms Stefan, Hoffmann Per, Pirooznia Mehdi, Goes Fernando S, Rietschel Marcella, Nöthen Markus M, Cichon Sven
Abstract excerpt
Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25-38% of phenotypic variance, and that rare variants may contribute to BD susceptibility. To identify rare, high-penetrance susceptibility variants for BD, whole-exome sequencing (WES) was performed in three...
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