449 research outputs found
Supplemental_Material_A_-_WGSPD_Inclusion-Exclusion_Criteria – Supplemental material for Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium
No full textSupplemental material, Supplemental_Material_A_-_WGSPD_Inclusion-Exclusion_Criteria for Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium by Maxwell Mansolf, Annabel Vreeker, Steven P. Reise, Nelson B. Freimer, David C. Glahn, Raquel E. Gur, Tyler M. Moore, Carlos N. Pato, Michele T. Pato, Aarno Palotie, Minna Holm, Jaana Suvisaari, Timo Partonen, Tuula Kieseppä, Tiina Paunio, Marco Boks, René Kahn, Roel A. Ophoff, Carrie E. Bearden, Loes Olde Loohuis, Terri Teshiba, Daniella deGeorge and Robert M. Bilder in Educational and Psychological Measurement</p
Supplemental_Material_B_-_Putative_Harmonized_Items_and_Parameters – Supplemental material for Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium
No full textSupplemental material, Supplemental_Material_B_-_Putative_Harmonized_Items_and_Parameters for Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium by Maxwell Mansolf, Annabel Vreeker, Steven P. Reise, Nelson B. Freimer, David C. Glahn, Raquel E. Gur, Tyler M. Moore, Carlos N. Pato, Michele T. Pato, Aarno Palotie, Minna Holm, Jaana Suvisaari, Timo Partonen, Tuula Kieseppä, Tiina Paunio, Marco Boks, René Kahn, Roel A. Ophoff, Carrie E. Bearden, Loes Olde Loohuis, Terri Teshiba, Daniella deGeorge and Robert M. Bilder in Educational and Psychological Measurement</p
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium
No full textIn the version of this article initially published, the consortium authorship and corresponding authors were not presented correctly. In the PDF and print versions, the Whole Genome Sequencing for Psychiatric Disorders (WGSPD) consortium was missing from the author list at the beginning of the paper, where it should have appeared as the seventh author; it was present in the author list at the end of the paper, but the footnote directing readers to the Supplementary Note for a list of members was missing. In the HTML version, the consortium was listed as the last author instead of as the seventh, and the line directing readers to the Supplementary Note for a list of members appeared at the end of the paper under Author Information but not in association with the consortium name itself. Also, this line stated that both member names and affiliations could be found in the Supplementary Note; in fact, only names are given. In all versions of the paper, the corresponding author symbols were attached to A. Jeremy Willsey, Steven E. Hyman, Anjene M. Addington and Thomas Lehner; they should have been attached, respectively, to Steven E. Hyman, Anjene M. Addington, Thomas Lehner and Nelson B. Freimer. As a result of this shift, the respective contact links in the HTML version did not lead to the indicated individuals. The errors have been corrected in the HTML and PDF versions of the article
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The molecular signatures of bipolar disorder and lithium treatment
No full textBipolar disorder (BD) is a highly heritable mood disorder with a complex genetic architecture. It is commonly treated prophylactically with the mood stabilizer lithium, although treatment responses vary widely across patients. Both how BD genetic variants confer risk and the molecular mechanisms underlying lithium’s therapeutic effects remain poorly understood. This dissertation begins with a review of recent findings from BD and lithium-response genetic studies and from BD and lithium treatment transcriptomic studies. This review will show that while presenting an opportunity to learn valuable information about underlying biology, gene expression studies investigating these phenotypes have had low sample sizes and inconsistent findings. Then, an original study attempting to fill this gap by exploring the whole blood transcriptome in a large BD case-control RNA sequencing sample is reported on. In this study, strong effects of lithium treatment and cell-type composition were revealed, pointing to potential therapeutic mechanisms of lithium, and underlining the importance of carefully correcting for these variables. To put these findings in the context of the current understanding of BD etiology and lithium treatment mechanisms, a comparison was made with findings previously reported highlighting a list of high-confidence lithium-associated genes. A gene-set analysis comparing genes with differential expression to genes implicated from major psychiatric genome-wide association studies revealed that the observed gene expression changes were unrelated to genetic risk. The findings herein contribute to the current understanding of the BD transcriptome in whole blood and provide evidence for the mechanistic actions of lithium treatment
Integrating behavioural health tracking in human genetics research
No full textInternet-connected devices could transform our understanding of the causes of behavioural variation and its impact on health and disease, in particular for neuropsychiatric disorders
Neurocognitive Phenotypes and Genetic Dissection of Disorders of Brain and Behavior
No full textElucidating the molecular mechanisms underlying quantitative neurocognitive phenotypes will further our understanding of the brain's structural and functional architecture and advance the diagnosis and treatment of the psychiatric disorders that these traits underlie. Although many neurocognitive traits are highly heritable, little progress has been made in identifying genetic variants unequivocally associated with these phenotypes. A major obstacle to such progress is the difficulty in identifying heritable neurocognitive measures that are precisely defined and systematically assessed and represent unambiguous mental constructs, yet are also amenable to the high-throughput phenotyping necessary to obtain adequate power for genetic association studies. In this perspective we compare the current status of genetic investigations of neurocognitive phenotypes to that of other categories of biomedically relevant traits and suggest strategies for genetically dissecting traits that may underlie disorders of brain and behavior
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